G8R (p.Gly8Arg) variant of CA2 (Carbonic anhydrase 2)
G8R (p.Gly8Arg) in CA2 (Carbonic anhydrase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
G8R (p.Gly8Arg) variant details
- p.Gly8Arg
- TOPMed rs1440181484
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- REVEL 0.37
- MetaLR 0.48
- MetaSVM -0.21
- CADD 24.00
- PolyPhen-2 0.11
- SIFT 0.02
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available