L25M (p.Leu25Met) variant of COL5A1 (Collagen alpha-1(V) chain)
L25M (p.Leu25Met) in COL5A1 (Collagen alpha-1(V) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
L25M (p.Leu25Met) variant details
- p.Leu25Met
- gnomAD rs1207972194
- Missense
- Variant Prioritization Score for Impact Estimate 0.377
- REVEL 0.38
- CADD 17.60
- PolyPhen-2 0.00
- SIFT 0.06
- Population evidence available
- Structural context available