G25R (p.Gly25Arg) variant of CA2 (Carbonic anhydrase 2)
G25R (p.Gly25Arg) 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.
G25R (p.Gly25Arg) variant details
- p.Gly25Arg
- rs762201348
- ExAC rs762201348
- gnomAD rs762201348
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.778
- REVEL 0.83
- MetaLR 0.91
- MetaSVM 1.09
- CADD 27.50
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available