N58H (p.Asn58His) variant of ACE2 (Angiotensin-converting enzyme 2)
N58H (p.Asn58His) in ACE2 (Angiotensin-converting enzyme 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
N58H (p.Asn58His) variant details
- p.Asn58His
- TOPMed rs1222417695
- gnomAD rs1222417695
- Missense
- Variant Prioritization Score for Impact Estimate 0.527
- REVEL 0.49
- CADD 25.30
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available