P31T (p.Pro31Thr) variant of COL17A1 (Collagen alpha-1(XVII) chain)
P31T (p.Pro31Thr) 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.
P31T (p.Pro31Thr) variant details
- p.Pro31Thr
- ExAC rs769433580
- Missense
- Variant Prioritization Score for Impact Estimate 0.777
- CADD 26.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)