L19L (p.Leu19Leu) variant of COL5A1 (Collagen alpha-1(V) chain)
L19L (p.Leu19Leu) in COL5A1 (Collagen alpha-1(V) chain) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
L19L (p.Leu19Leu) variant details
- p.Leu19Leu
- gnomAD 9-134642242-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.402
- CADD 11.10
- Population evidence available
- Structural context available
- Literature evidence available