P31S (p.Pro31Ser) variant of COL17A1 (Collagen alpha-1(XVII) chain)
P31S (p.Pro31Ser) in COL17A1 (Collagen alpha-1(XVII) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data.
P31S (p.Pro31Ser) variant details
- p.Pro31Ser
- cosmic curated COSV62227
- ExAC rs769433580
- Missense
- Variant Prioritization Score for Impact Estimate 0.781
- CADD 26.50
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)