D19N (p.Asp19Asn) variant of CA2 (Carbonic anhydrase 2)
D19N (p.Asp19Asn) in CA2 (Carbonic anhydrase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
D19N (p.Asp19Asn) variant details
- p.Asp19Asn
- TOPMed rs1443139589
- gnomAD rs1443139589
- Missense
- Variant Prioritization Score for Impact Estimate 0.19
- REVEL 0.07
- MetaLR 0.26
- MetaSVM -0.89
- CADD 16.90
- SIFT 0.85
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available