D52D (p.Asp52Asp) variant of CA2 (Carbonic anhydrase 2)
D52D (p.Asp52Asp) in CA2 (Carbonic anhydrase 2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
D52D (p.Asp52Asp) variant details
- p.Asp52Asp
- rs138896341
- gnomAD 8-85465393-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0822
- CADD 0.22
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available
- Literature evidence available