H10P (p.His10Pro) variant of CA2 (Carbonic anhydrase 2)
H10P (p.His10Pro) in CA2 (Carbonic anhydrase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
H10P (p.His10Pro) variant details
- p.His10Pro
- 1000Genomes rs2130539869
- Missense
- Variant Prioritization Score for Impact Estimate 0.23
- REVEL 0.18
- MetaLR 0.12
- MetaSVM -1.06
- CADD 22.70
- SIFT 0.06
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available