N58K (p.Asn58Lys) variant of ACE2 (Angiotensin-converting enzyme 2)
N58K (p.Asn58Lys) in ACE2 (Angiotensin-converting enzyme 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
N58K (p.Asn58Lys) variant details
- p.Asn58Lys
- ExAC rs771621249
- gnomAD rs771621249
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- REVEL 0.23
- CADD 24.60
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available