V23A (p.Val23Ala) variant of COL17A1 (Collagen alpha-1(XVII) chain)
V23A (p.Val23Ala) 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.
V23A (p.Val23Ala) variant details
- p.Val23Ala
- ExAC rs774479515
- gnomAD rs774479515
- Missense
- Variant Prioritization Score for Impact Estimate 0.605
- CADD 24.00
- PolyPhen-2 0.36
- SIFT 0.00
- Most common in the Middle Eastern population (allele frequency 0.0007)