L28W (p.Leu28Trp) variant of COL5A1 (Collagen alpha-1(V) chain)
L28W (p.Leu28Trp) in COL5A1 (Collagen alpha-1(V) chain) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
L28W (p.Leu28Trp) variant details
- p.Leu28Trp
- gnomAD 9-134642268-G-GTG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.448
- CADD 31.00
- Most common in the Middle Eastern population (allele frequency 0.00035)
- Structural context available
- Literature evidence available