G12R (p.Gly12Arg) variant of CA2 (Carbonic anhydrase 2)
G12R (p.Gly12Arg) in CA2 (Carbonic anhydrase 2) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data and structural context.
G12R (p.Gly12Arg) variant details
- p.Gly12Arg
- ExAC rs772898318
- TOPMed rs772898318
- gnomAD rs772898318
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.882
- REVEL 0.92
- MetaLR 0.85
- MetaSVM 0.96
- CADD 35.00
- PolyPhen-2 1.00
- SIFT 0.03
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available