A30V (p.Ala30Val) variant of COL6A3 (Collagen alpha-3(VI) chain)
A30V (p.Ala30Val) in COL6A3 (Collagen alpha-3(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
A30V (p.Ala30Val) variant details
- p.Ala30Val
- gnomAD rs371046481
- Missense
- Variant Prioritization Score for Impact Estimate 0.288
- REVEL 0.14
- MetaLR 0.51
- MetaSVM -0.33
- CADD 23.90
- PolyPhen-2 0.03
- SIFT 0.56
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available