H4N (p.His4Asn) variant of CA2 (Carbonic anhydrase 2)
H4N (p.His4Asn) in CA2 (Carbonic anhydrase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
H4N (p.His4Asn) variant details
- p.His4Asn
- gnomAD 8-85464091-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.356
- REVEL 0.19
- MetaLR 0.46
- MetaSVM -0.24
- CADD 17.60
- PolyPhen-2 0.01
- SIFT 0.43
- Population evidence available
- Structural context available
- Literature evidence available