W7L (p.Trp7Leu) variant of COL5A1 (Collagen alpha-1(V) chain)
W7L (p.Trp7Leu) in COL5A1 (Collagen alpha-1(V) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
W7L (p.Trp7Leu) variant details
- p.Trp7Leu
- gnomAD 9-134642207-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.595
- REVEL 0.51
- CADD 25.40
- PolyPhen-2 0.31
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available