G6E (p.Gly6Glu) variant of CA2 (Carbonic anhydrase 2)
G6E (p.Gly6Glu) in CA2 (Carbonic anhydrase 2) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
G6E (p.Gly6Glu) variant details
- p.Gly6Glu
- rs769398095
- ExAC rs769398095
- gnomAD rs769398095
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.783
- REVEL 0.79
- MetaLR 0.77
- MetaSVM 0.62
- CADD 29.90
- PolyPhen-2 0.99
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available