D52N (p.Asp52Asn) variant of CA2 (Carbonic anhydrase 2)
D52N (p.Asp52Asn) in CA2 (Carbonic anhydrase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
D52N (p.Asp52Asn) variant details
- p.Asp52Asn
- gnomAD 8-85465391-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.396
- REVEL 0.31
- MetaLR 0.27
- MetaSVM -0.71
- CADD 22.10
- PolyPhen-2 0.02
- SIFT 0.07
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available
- Literature evidence available