L23L (p.Leu23Leu) variant of COL5A1 (Collagen alpha-1(V) chain)
L23L (p.Leu23Leu) in COL5A1 (Collagen alpha-1(V) chain) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
L23L (p.Leu23Leu) variant details
- p.Leu23Leu
- gnomAD 9-134642254-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.377
- CADD 12.70
- Population evidence available
- Structural context available
- Literature evidence available