K26R (p.Lys26Arg) variant of ACE2 (Angiotensin-converting enzyme 2)
K26R (p.Lys26Arg) in ACE2 (Angiotensin-converting enzyme 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.03 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
K26R (p.Lys26Arg) variant details
- p.Lys26Arg
- rs4646116
- ClinGen CA10355551
- ClinVar RCV000961241
- UniProt VAR 023082
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0321
- REVEL 0.01
- CADD 0.28
- PolyPhen-2 0.00
- SIFT 0.41
- ClinVar: Likely benign (not provided)
- EBI: Likely benign (in dbSNP:rs4646116)
- UniProt: Likely benign (in dbSNP:rs4646116)
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- ACE2 binding to SARS-CoV-2 spike protein, low affinity: score -1.72
- Cited in: Genetic variability of human angiotensin-converting enzyme 2 (hACE2) among various ethnic populations. (PMID 32558308)