G12E (p.Gly12Glu) variant of CA2 (Carbonic anhydrase 2)
G12E (p.Gly12Glu) in CA2 (Carbonic anhydrase 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Osteopetrosis with renal tubular acidosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
G12E (p.Gly12Glu) variant details
- p.Gly12Glu
- ExAC rs748748151
- TOPMed rs748748151
- gnomAD rs748748151
- Uncertain significance
- Osteopetrosis with renal tubular acidosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.818
- REVEL 0.79
- MetaLR 0.82
- MetaSVM 0.81
- CADD 33.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Osteopetrosis with renal tubular acidosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available