H36P (p.His36Pro) variant of CA2 (Carbonic anhydrase 2)
H36P (p.His36Pro) in CA2 (Carbonic anhydrase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
H36P (p.His36Pro) variant details
- p.His36Pro
- ExAC rs781499832
- gnomAD rs781499832
- Missense
- Variant Prioritization Score for Impact Estimate 0.137
- REVEL 0.11
- MetaLR 0.15
- MetaSVM -0.92
- CADD 7.98
- PolyPhen-2 0.00
- SIFT 0.06
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available