T22S (p.Thr22Ser) variant of COL17A1 (Collagen alpha-1(XVII) chain)
T22S (p.Thr22Ser) in COL17A1 (Collagen alpha-1(XVII) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data.
T22S (p.Thr22Ser) variant details
- p.Thr22Ser
- 1000Genomes rs201183562
- ExAC rs201183562
- TOPMed rs201183562
- gnomAD rs201183562
- Missense
- Variant Prioritization Score for Impact Estimate 0.621
- CADD 23.50
- PolyPhen-2 0.98
- SIFT 0.15
- Most common in the African/African-American population (allele frequency 0.00041)