I21V (p.Ile21Val) variant of ACE2 (Angiotensin-converting enzyme 2)
I21V (p.Ile21Val) in ACE2 (Angiotensin-converting enzyme 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, experimental measurements, and structural context.
I21V (p.Ile21Val) variant details
- p.Ile21Val
- cosmic curated COSV53024
- ExAC rs778030746
- gnomAD rs778030746
- Missense
- Variant Prioritization Score for Impact Estimate 0.169
- REVEL 0.02
- CADD 0.78
- PolyPhen-2 0.00
- SIFT 0.84
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available
- ACE2 binding to SARS-CoV-2 spike protein, low affinity: score 0.217