H3N (p.His3Asn) variant of CA2 (Carbonic anhydrase 2)
H3N (p.His3Asn) in CA2 (Carbonic anhydrase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
H3N (p.His3Asn) variant details
- p.His3Asn
- gnomAD 8-85464088-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.483
- REVEL 0.40
- MetaLR 0.53
- MetaSVM -0.01
- CADD 22.90
- PolyPhen-2 0.60
- SIFT 0.12
- Population evidence available
- Structural context available
- Literature evidence available