L13V (p.Leu13Val) variant of COL5A1 (Collagen alpha-1(V) chain)
L13V (p.Leu13Val) in COL5A1 (Collagen alpha-1(V) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
L13V (p.Leu13Val) variant details
- p.Leu13Val
- gnomAD 9-134642224-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.224
- REVEL 0.19
- CADD 15.60
- PolyPhen-2 0.00
- SIFT 0.33
- Population evidence available
- Structural context available
- Literature evidence available