A79V (p.Ala79Val) variant of COL6A3 (Collagen alpha-3(VI) chain)
A79V (p.Ala79Val) in COL6A3 (Collagen alpha-3(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
A79V (p.Ala79Val) variant details
- p.Ala79Val
- ExAC rs757465277
- gnomAD rs757465277
- Missense
- Variant Prioritization Score for Impact Estimate 0.75
- REVEL 0.80
- MetaLR 0.70
- MetaSVM 0.07
- CADD 26.30
- PolyPhen-2 0.96
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available