Q18K (p.Gln18Lys) variant of ACE2 (Angiotensin-converting enzyme 2)
Q18K (p.Gln18Lys) in ACE2 (Angiotensin-converting enzyme 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
Q18K (p.Gln18Lys) variant details
- p.Gln18Lys
- cosmic curated COSV99383
- TOPMed rs1928158002
- gnomAD rs1928158002
- Missense
- Variant Prioritization Score for Impact Estimate 0.403
- REVEL 0.20
- CADD 22.90
- PolyPhen-2 0.74
- SIFT 0.06
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available