A9S (p.Ala9Ser) variant of COL5A1 (Collagen alpha-1(V) chain)
A9S (p.Ala9Ser) in COL5A1 (Collagen alpha-1(V) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
A9S (p.Ala9Ser) variant details
- p.Ala9Ser
- gnomAD 9-134642212-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- REVEL 0.19
- CADD 21.10
- PolyPhen-2 0.00
- SIFT 0.38
- Population evidence available
- Structural context available
- Literature evidence available