N62H (p.Asn62His) variant of CA2 (Carbonic anhydrase 2)
N62H (p.Asn62His) in CA2 (Carbonic anhydrase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
N62H (p.Asn62His) variant details
- p.Asn62His
- gnomAD 8-85465421-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.797
- REVEL 0.89
- MetaLR 0.83
- MetaSVM 0.91
- CADD 26.00
- PolyPhen-2 0.86
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available