R27R (p.Arg27Arg) variant of CA2 (Carbonic anhydrase 2)
R27R (p.Arg27Arg) in CA2 (Carbonic anhydrase 2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
R27R (p.Arg27Arg) variant details
- p.Arg27Arg
- gnomAD 8-85465318-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.24
- CADD 8.81
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available