SNP

Polyphen 2 (Score, 0 - 1)

UMD-Predictor (0 - 100)

Provean (cutoff = −2.5)

c.246 T > A, p.82Asn > Lys

Probably Damaging (1)

pathogen (88)

deleterious (−5.807)

c.171 G > C, p.57Gln > His

Probably Damaging (1)

Probable polymorphism (55)

deleterious (−3.345)