Q53R (p.Gln53Arg) variant of CA2 (Carbonic anhydrase 2)
Q53R (p.Gln53Arg) in CA2 (Carbonic anhydrase 2) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
Q53R (p.Gln53Arg) variant details
- p.Gln53Arg
- NCI-TCGA TCGA novel
- TOPMed rs1811613054
- gnomAD rs1811613054
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.234
- REVEL 0.18
- MetaLR 0.18
- MetaSVM -0.87
- CADD 16.00
- SIFT 0.09
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available