D42E (p.Asp42Glu) variant of COL6A2 (Collagen alpha-2(VI) chain)
D42E (p.Asp42Glu) in COL6A2 (Collagen alpha-2(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
D42E (p.Asp42Glu) variant details
- p.Asp42Glu
- TOPMed rs2078405372
- gnomAD rs2078405372
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- REVEL 0.24
- CADD 13.80
- PolyPhen-2 0.44
- SIFT 0.35
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available