E73K (p.Glu73Lys) variant of COL6A3 (Collagen alpha-3(VI) chain)
E73K (p.Glu73Lys) in COL6A3 (Collagen alpha-3(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
E73K (p.Glu73Lys) variant details
- p.Glu73Lys
- ExAC rs775433277
- gnomAD rs775433277
- Missense
- Variant Prioritization Score for Impact Estimate 0.33
- REVEL 0.28
- MetaLR 0.38
- MetaSVM -0.80
- CADD 18.20
- PolyPhen-2 0.00
- SIFT 0.16
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available