R27H (p.Arg27His) variant of CA2 (Carbonic anhydrase 2)
R27H (p.Arg27His) 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 0.36 / 1. The record also includes population frequency data and structural context.
R27H (p.Arg27His) variant details
- p.Arg27His
- rs765669662
- NCI-TCGA Cosmic COSV5340
- ExAC rs765669662
- TOPMed rs765669662
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.36
- REVEL 0.18
- MetaLR 0.27
- MetaSVM -0.61
- CADD 23.00
- PolyPhen-2 0.05
- SIFT 0.07
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available