K18Q (p.Lys18Gln) variant of CA2 (Carbonic anhydrase 2)
K18Q (p.Lys18Gln) in CA2 (Carbonic anhydrase 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
K18Q (p.Lys18Gln) variant details
- p.Lys18Gln
- rs118203931
- ClinGen CA4796404
- ClinVar RCV002962174
- 1000Genomes rs118203931
- Benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.218
- REVEL 0.10
- MetaLR 0.42
- MetaSVM -0.62
- CADD 18.40
- PolyPhen-2 0.01
- SIFT 0.11
- ClinVar: Benign (not provided)
- EBI: Pathogenic (in Jogjakarta)
- UniProt: Pathogenic (in Jogjakarta)
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available