L28L (p.Leu28Leu) variant of COL5A1 (Collagen alpha-1(V) chain)
L28L (p.Leu28Leu) in COL5A1 (Collagen alpha-1(V) chain) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
L28L (p.Leu28Leu) variant details
- p.Leu28Leu
- gnomAD 9-134642269-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.478
- CADD 15.00
- Most common in the South Asian population (allele frequency 3.9e-05)
- Structural context available
- Literature evidence available