T22K (p.Thr22Lys) variant of COL17A1 (Collagen alpha-1(XVII) chain)
T22K (p.Thr22Lys) in COL17A1 (Collagen alpha-1(XVII) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data.
T22K (p.Thr22Lys) variant details
- p.Thr22Lys
- ExAC rs767281533
- TOPMed rs767281533
- gnomAD rs767281533
- Missense
- Variant Prioritization Score for Impact Estimate 0.685
- CADD 26.90
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)