W7S (p.Trp7Ser) variant of COL5A1 (Collagen alpha-1(V) chain)
W7S (p.Trp7Ser) in COL5A1 (Collagen alpha-1(V) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
W7S (p.Trp7Ser) variant details
- p.Trp7Ser
- gnomAD 9-134642207-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.648
- REVEL 0.61
- CADD 24.20
- PolyPhen-2 0.40
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available