K18E (p.Lys18Glu) variant of CA2 (Carbonic anhydrase 2)
K18E (p.Lys18Glu) in CA2 (Carbonic anhydrase 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of CARBONIC ANHYDRASE II VARIANT. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
K18E (p.Lys18Glu) variant details
- p.Lys18Glu
- rs118203931
- ClinGen CA114621
- ClinVar RCV000000962
- UniProt VAR 001380
- Pathogenic
- CARBONIC ANHYDRASE II VARIANT
- Missense
- Variant Prioritization Score for Impact Estimate 0.204
- REVEL 0.11
- MetaLR 0.23
- MetaSVM -0.85
- CADD 16.10
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Pathogenic (CARBONIC ANHYDRASE II VARIANT)
- EBI: Pathogenic (in Jogjakarta)
- UniProt: Pathogenic (in Jogjakarta)
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- Cited in: Chemical and enzymological characterization of an Indonesian variant of human erythrocyte carbonic anhydrase II, CAII… (PMID 6817747)