D52D (p.Asp52Asp) variant of COL6A2 (Collagen alpha-2(VI) chain)
D52D (p.Asp52Asp) in COL6A2 (Collagen alpha-2(VI) chain) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
D52D (p.Asp52Asp) variant details
- p.Asp52Asp
- gnomAD 21-46112019-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.439
- CADD 12.20
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available
- Literature evidence available