H17R (p.His17Arg) variant of CA2 (Carbonic anhydrase 2)
H17R (p.His17Arg) in CA2 (Carbonic anhydrase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
H17R (p.His17Arg) variant details
- p.His17Arg
- ExAC rs764493785
- TOPMed rs764493785
- gnomAD rs764493785
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- REVEL 0.21
- MetaLR 0.19
- MetaSVM -0.88
- CADD 22.50
- PolyPhen-2 0.01
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available