D32H (p.Asp32His) variant of CA2 (Carbonic anhydrase 2)
D32H (p.Asp32His) in CA2 (Carbonic anhydrase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
D32H (p.Asp32His) variant details
- p.Asp32His
- gnomAD rs1339603459
- Missense
- Variant Prioritization Score for Impact Estimate 0.612
- REVEL 0.67
- MetaLR 0.79
- MetaSVM 0.60
- CADD 24.90
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available