Q101R (p.Gln101Arg) variant of ACE2 (Angiotensin-converting enzyme 2)
Q101R (p.Gln101Arg) in ACE2 (Angiotensin-converting enzyme 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
Q101R (p.Gln101Arg) variant details
- p.Gln101Arg
- TOPMed rs1927923367
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- REVEL 0.16
- CADD 18.20
- PolyPhen-2 0.21
- SIFT 0.08
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available