D41V (p.Asp41Val) variant of CA2 (Carbonic anhydrase 2)
D41V (p.Asp41Val) in CA2 (Carbonic anhydrase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
D41V (p.Asp41Val) variant details
- p.Asp41Val
- TOPMed rs1811612056
- gnomAD rs1811612056
- Missense
- Variant Prioritization Score for Impact Estimate 0.672
- REVEL 0.82
- MetaLR 0.48
- MetaSVM 0.05
- CADD 29.10
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available