R27G (p.Arg27Gly) variant of CA2 (Carbonic anhydrase 2)
R27G (p.Arg27Gly) in CA2 (Carbonic anhydrase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
R27G (p.Arg27Gly) variant details
- p.Arg27Gly
- TOPMed rs1380072010
- gnomAD rs1380072010
- Missense
- Variant Prioritization Score for Impact Estimate 0.642
- REVEL 0.59
- MetaLR 0.64
- MetaSVM 0.54
- CADD 27.20
- PolyPhen-2 0.87
- SIFT 0.00
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available