G6R (p.Gly6Arg) variant of CA2 (Carbonic anhydrase 2)
G6R (p.Gly6Arg) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
G6R (p.Gly6Arg) variant details
- p.Gly6Arg
- rs1219072767
- ClinGen CA371423016
- ClinVar RCV003020153
- TOPMed rs1219072767
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.809
- REVEL 0.80
- MetaLR 0.79
- MetaSVM 0.79
- CADD 33.00
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available