L20R (p.Leu20Arg) variant of COL5A1 (Collagen alpha-1(V) chain)
L20R (p.Leu20Arg) in COL5A1 (Collagen alpha-1(V) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
L20R (p.Leu20Arg) variant details
- p.Leu20Arg
- gnomAD 9-134642246-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.465
- REVEL 0.48
- CADD 17.10
- PolyPhen-2 0.00
- SIFT 0.21
- Population evidence available
- Structural context available
- Literature evidence available