L26A (p.Leu26Ala) variant of COL5A1 (Collagen alpha-1(V) chain)
L26A (p.Leu26Ala) 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.
L26A (p.Leu26Ala) variant details
- p.Leu26Ala
- gnomAD 9-134642262-GCT-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.473
- CADD 27.50
- Population evidence available
- Structural context available
- Literature evidence available