E53K (p.Glu53Lys) variant of COL6A3 (Collagen alpha-3(VI) chain)
E53K (p.Glu53Lys) in COL6A3 (Collagen alpha-3(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
E53K (p.Glu53Lys) variant details
- p.Glu53Lys
- ExAC rs763355681
- gnomAD rs763355681
- Missense
- Variant Prioritization Score for Impact Estimate 0.459
- REVEL 0.46
- MetaLR 0.31
- MetaSVM -0.79
- CADD 23.20
- PolyPhen-2 0.27
- SIFT 0.01
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available