R115Q (p.Arg115Gln) variant of ACE2 (Angiotensin-converting enzyme 2)
R115Q (p.Arg115Gln) in ACE2 (Angiotensin-converting enzyme 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data and structural context.
R115Q (p.Arg115Gln) variant details
- p.Arg115Gln
- cosmic curated COSV53025
- 1000Genomes rs201900069
- ESP rs201900069
- ExAC rs201900069
- Missense
- Variant Prioritization Score for Impact Estimate 0.053
- REVEL 0.03
- CADD 2.29
- PolyPhen-2 0.01
- SIFT 0.43
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available