A9T (p.Ala9Thr) variant of COL5A1 (Collagen alpha-1(V) chain)
A9T (p.Ala9Thr) in COL5A1 (Collagen alpha-1(V) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
A9T (p.Ala9Thr) variant details
- p.Ala9Thr
- gnomAD 9-134642212-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.22
- CADD 19.40
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available