N103H (p.Asn103His) variant of ACE2 (Angiotensin-converting enzyme 2)
N103H (p.Asn103His) in ACE2 (Angiotensin-converting enzyme 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
N103H (p.Asn103His) variant details
- p.Asn103His
- ESP rs143158922
- ExAC rs143158922
- TOPMed rs143158922
- gnomAD rs143158922
- Missense
- Variant Prioritization Score for Impact Estimate 0.194
- REVEL 0.12
- CADD 15.80
- PolyPhen-2 0.62
- SIFT 0.51
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available