A70V (p.Ala70Val) variant of COL6A3 (Collagen alpha-3(VI) chain)
A70V (p.Ala70Val) in COL6A3 (Collagen alpha-3(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
A70V (p.Ala70Val) variant details
- p.Ala70Val
- TOPMed rs1361842649
- Missense
- Variant Prioritization Score for Impact Estimate 0.395
- REVEL 0.26
- MetaLR 0.24
- MetaSVM -0.85
- CADD 23.20
- PolyPhen-2 0.01
- SIFT 0.27
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available