G35S (p.Gly35Ser) variant of COL6A3 (Collagen alpha-3(VI) chain)
G35S (p.Gly35Ser) in COL6A3 (Collagen alpha-3(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
G35S (p.Gly35Ser) variant details
- p.Gly35Ser
- ExAC rs778530814
- gnomAD rs778530814
- Missense
- Variant Prioritization Score for Impact Estimate 0.349
- REVEL 0.17
- MetaLR 0.26
- MetaSVM -0.88
- CADD 22.30
- PolyPhen-2 0.05
- SIFT 0.78
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available