K33T (p.Lys33Thr) variant of COL17A1 (Collagen alpha-1(XVII) chain)
K33T (p.Lys33Thr) in COL17A1 (Collagen alpha-1(XVII) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data.
K33T (p.Lys33Thr) variant details
- p.Lys33Thr
- ExAC rs764724925
- gnomAD rs764724925
- Missense
- Variant Prioritization Score for Impact Estimate 0.612
- CADD 24.20
- PolyPhen-2 0.22
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)