E171V (p.Glu171Val) variant of ACE2 (Angiotensin-converting enzyme 2)
E171V (p.Glu171Val) in ACE2 (Angiotensin-converting enzyme 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
E171V (p.Glu171Val) variant details
- p.Glu171Val
- ExAC rs748076875
- TOPMed rs748076875
- gnomAD rs748076875
- Missense
- Variant Prioritization Score for Impact Estimate 0.192
- REVEL 0.04
- CADD 13.60
- PolyPhen-2 0.00
- SIFT 0.26
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available