L27M (p.Leu27Met) variant of COL5A1 (Collagen alpha-1(V) chain)
L27M (p.Leu27Met) in COL5A1 (Collagen alpha-1(V) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
L27M (p.Leu27Met) variant details
- p.Leu27Met
- gnomAD 9-134642266-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.432
- REVEL 0.39
- CADD 23.70
- PolyPhen-2 0.91
- SIFT 0.18
- Population evidence available
- Structural context available
- Literature evidence available