R2K (p.Arg2Lys) variant of COL6A3 (Collagen alpha-3(VI) chain)
R2K (p.Arg2Lys) in COL6A3 (Collagen alpha-3(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
R2K (p.Arg2Lys) variant details
- p.Arg2Lys
- ExAC rs756965450
- TOPMed rs756965450
- gnomAD rs756965450
- Missense
- Variant Prioritization Score for Impact Estimate 0.599
- REVEL 0.44
- MetaLR 0.82
- MetaSVM 0.43
- CADD 25.80
- PolyPhen-2 0.97
- SIFT 0.10
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available