E171D (p.Glu171Asp) variant of ACE2 (Angiotensin-converting enzyme 2)
E171D (p.Glu171Asp) in ACE2 (Angiotensin-converting enzyme 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
E171D (p.Glu171Asp) variant details
- p.Glu171Asp
- gnomAD rs1341206593
- Missense
- Variant Prioritization Score for Impact Estimate 0.105
- REVEL 0.05
- CADD 6.97
- PolyPhen-2 0.00
- SIFT 0.53
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available