L26L (p.Leu26Leu) variant of COL5A1 (Collagen alpha-1(V) chain)
L26L (p.Leu26Leu) 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.
L26L (p.Leu26Leu) variant details
- p.Leu26Leu
- rs1254852661
- gnomAD 9-134642263-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.377
- CADD 14.00
- Most common in the African/African-American population (allele frequency 4.9e-05)
- Structural context available
- Literature evidence available