R27C (p.Arg27Cys) variant of CA2 (Carbonic anhydrase 2)
R27C (p.Arg27Cys) in CA2 (Carbonic anhydrase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
R27C (p.Arg27Cys) variant details
- p.Arg27Cys
- TOPMed rs1380072010
- gnomAD rs1380072010
- Missense
- Variant Prioritization Score for Impact Estimate 0.578
- REVEL 0.53
- MetaLR 0.49
- MetaSVM 0.27
- CADD 25.20
- PolyPhen-2 0.40
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available