L23M (p.Leu23Met) variant of COL5A1 (Collagen alpha-1(V) chain)
L23M (p.Leu23Met) 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.
L23M (p.Leu23Met) variant details
- p.Leu23Met
- gnomAD 9-134642254-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- REVEL 0.23
- CADD 22.50
- PolyPhen-2 0.67
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available