A79S (p.Ala79Ser) variant of COL6A3 (Collagen alpha-3(VI) chain)
A79S (p.Ala79Ser) in COL6A3 (Collagen alpha-3(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
A79S (p.Ala79Ser) variant details
- p.Ala79Ser
- Ensembl rs1263940729
- Missense
- Variant Prioritization Score for Impact Estimate 0.562
- REVEL 0.47
- MetaLR 0.48
- MetaSVM -0.35
- CADD 23.70
- PolyPhen-2 0.84
- SIFT 0.00
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available