A17T (p.Ala17Thr) variant of COL5A1 (Collagen alpha-1(V) chain)
A17T (p.Ala17Thr) in COL5A1 (Collagen alpha-1(V) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
A17T (p.Ala17Thr) variant details
- p.Ala17Thr
- gnomAD 9-134642236-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.262
- REVEL 0.23
- CADD 12.90
- PolyPhen-2 0.00
- SIFT 0.96
- Most common in the South Asian population (allele frequency 7.8e-05)
- Structural context available
- Literature evidence available