G8S (p.Gly8Ser) variant of CA2 (Carbonic anhydrase 2)
G8S (p.Gly8Ser) in CA2 (Carbonic anhydrase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
G8S (p.Gly8Ser) variant details
- p.Gly8Ser
- TOPMed rs1440181484
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- REVEL 0.15
- MetaLR 0.36
- MetaSVM -0.56
- CADD 22.80
- PolyPhen-2 0.00
- SIFT 0.12
- Population evidence available
- Structural context available