L26R (p.Leu26Arg) variant of COL5A1 (Collagen alpha-1(V) chain)
L26R (p.Leu26Arg) in COL5A1 (Collagen alpha-1(V) chain) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
L26R (p.Leu26Arg) variant details
- p.Leu26Arg
- gnomAD 9-134642263-CT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.468
- CADD 26.80
- Population evidence available
- Structural context available
- Literature evidence available