H4D (p.His4Asp) variant of CA2 (Carbonic anhydrase 2)
H4D (p.His4Asp) in CA2 (Carbonic anhydrase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
H4D (p.His4Asp) variant details
- p.His4Asp
- gnomAD rs1241095682
- Missense
- Variant Prioritization Score for Impact Estimate 0.368
- REVEL 0.23
- MetaLR 0.35
- MetaSVM -0.58
- CADD 17.60
- PolyPhen-2 0.10
- SIFT 0.56
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available