H195N (p.His195Asn) variant of ACE2 (Angiotensin-converting enzyme 2)
H195N (p.His195Asn) in ACE2 (Angiotensin-converting enzyme 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
H195N (p.His195Asn) variant details
- p.His195Asn
- ExAC rs764661406
- TOPMed rs764661406
- gnomAD rs764661406
- Missense
- Variant Prioritization Score for Impact Estimate 0.109
- REVEL 0.05
- CADD 10.70
- PolyPhen-2 0.00
- SIFT 0.35
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available