H17P (p.His17Pro) variant of CA2 (Carbonic anhydrase 2)
H17P (p.His17Pro) in CA2 (Carbonic anhydrase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
H17P (p.His17Pro) variant details
- p.His17Pro
- ExAC rs764493785
- TOPMed rs764493785
- gnomAD rs764493785
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- REVEL 0.31
- MetaLR 0.17
- MetaSVM -0.92
- CADD 23.80
- PolyPhen-2 0.01
- SIFT 0.03
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available