T43P (p.Thr43Pro) variant of COL17A1 (Collagen alpha-1(XVII) chain)
T43P (p.Thr43Pro) in COL17A1 (Collagen alpha-1(XVII) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data.
T43P (p.Thr43Pro) variant details
- p.Thr43Pro
- ExAC rs74887708
- gnomAD rs74887708
- Missense
- Variant Prioritization Score for Impact Estimate 0.501
- CADD 22.70
- PolyPhen-2 0.23
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 0.00031)