L19A (p.Leu19Ala) variant of COL5A1 (Collagen alpha-1(V) chain)
L19A (p.Leu19Ala) in COL5A1 (Collagen alpha-1(V) chain) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
L19A (p.Leu19Ala) variant details
- p.Leu19Ala
- gnomAD 9-134642236-G-GC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.381
- CADD 23.50
- Most common in the South Asian population (allele frequency 2.6e-05)
- Structural context available
- Literature evidence available