L20P (p.Leu20Pro) variant of COL5A1 (Collagen alpha-1(V) chain)
L20P (p.Leu20Pro) 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.
L20P (p.Leu20Pro) variant details
- p.Leu20Pro
- gnomAD 9-134642246-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.429
- REVEL 0.42
- CADD 17.70
- PolyPhen-2 0.00
- SIFT 0.19
- Population evidence available
- Structural context available
- Literature evidence available