L19R (p.Leu19Arg) variant of COL5A1 (Collagen alpha-1(V) chain)
L19R (p.Leu19Arg) 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.
L19R (p.Leu19Arg) variant details
- p.Leu19Arg
- gnomAD 9-134642243-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- REVEL 0.56
- CADD 22.40
- PolyPhen-2 0.77
- SIFT 0.33
- Population evidence available
- Structural context available
- Literature evidence available