E39D (p.Glu39Asp) variant of COL6A2 (Collagen alpha-2(VI) chain)
E39D (p.Glu39Asp) in COL6A2 (Collagen alpha-2(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
E39D (p.Glu39Asp) variant details
- p.Glu39Asp
- gnomAD rs1270122764
- Missense
- Variant Prioritization Score for Impact Estimate 0.197
- REVEL 0.10
- CADD 15.50
- PolyPhen-2 0.08
- SIFT 0.29
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available