L20L (p.Leu20Leu) variant of COL5A1 (Collagen alpha-1(V) chain)
L20L (p.Leu20Leu) in COL5A1 (Collagen alpha-1(V) chain) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
L20L (p.Leu20Leu) variant details
- p.Leu20Leu
- rs963245639
- gnomAD 9-134642245-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.442
- CADD 11.30
- Population evidence available
- Structural context available
- Literature evidence available