R169I (p.Arg169Ile) variant of ACE2 (Angiotensin-converting enzyme 2)
R169I (p.Arg169Ile) in ACE2 (Angiotensin-converting enzyme 2) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
R169I (p.Arg169Ile) variant details
- p.Arg169Ile
- NCI-TCGA Cosmic COSV5302
- cosmic curated COSV53024
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.679
- REVEL 0.65
- CADD 25.10
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available