L24M (p.Leu24Met) variant of COL5A1 (Collagen alpha-1(V) chain)
L24M (p.Leu24Met) 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.
L24M (p.Leu24Met) variant details
- p.Leu24Met
- gnomAD 9-134642257-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- REVEL 0.33
- CADD 15.40
- PolyPhen-2 0.00
- SIFT 0.11
- Population evidence available
- Structural context available
- Literature evidence available