H15R (p.His15Arg) variant of CA2 (Carbonic anhydrase 2)
H15R (p.His15Arg) in CA2 (Carbonic anhydrase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
H15R (p.His15Arg) variant details
- p.His15Arg
- ExAC rs759148315
- gnomAD rs759148315
- Missense
- Variant Prioritization Score for Impact Estimate 0.203
- REVEL 0.12
- MetaLR 0.40
- MetaSVM -0.60
- CADD 13.50
- PolyPhen-2 0.01
- SIFT 0.20
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available