A9V (p.Ala9Val) variant of COL5A1 (Collagen alpha-1(V) chain)
A9V (p.Ala9Val) in COL5A1 (Collagen alpha-1(V) chain) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
A9V (p.Ala9Val) variant details
- p.Ala9Val
- TOPMed rs900216804
- gnomAD rs900216804
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- REVEL 0.28
- CADD 19.70
- PolyPhen-2 0.00
- SIFT 0.12
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available