T22I (p.Thr22Ile) variant of COL17A1 (Collagen alpha-1(XVII) chain)
T22I (p.Thr22Ile) in COL17A1 (Collagen alpha-1(XVII) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data.
T22I (p.Thr22Ile) variant details
- p.Thr22Ile
- ExAC rs767281533
- TOPMed rs767281533
- gnomAD rs767281533
- Missense
- Variant Prioritization Score for Impact Estimate 0.708
- CADD 29.70
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 2.4e-05)