L27L (p.Leu27Leu) variant of COL5A1 (Collagen alpha-1(V) chain)
L27L (p.Leu27Leu) in COL5A1 (Collagen alpha-1(V) chain) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
L27L (p.Leu27Leu) variant details
- p.Leu27Leu
- gnomAD 9-134642266-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.418
- CADD 14.70
- Population evidence available
- Structural context available
- Literature evidence available