L23A (p.Leu23Ala) variant of COL5A1 (Collagen alpha-1(V) chain)
L23A (p.Leu23Ala) in COL5A1 (Collagen alpha-1(V) chain) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
L23A (p.Leu23Ala) variant details
- p.Leu23Ala
- gnomAD 9-134642247-G-GC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.697
- CADD 24.50
- Most common in the Latino/Admixed American population (allele frequency 5.8e-05)
- Structural context available
- Literature evidence available