R115W (p.Arg115Trp) variant of ACE2 (Angiotensin-converting enzyme 2)
R115W (p.Arg115Trp) 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 0.21 / 1. The record also includes population frequency data and structural context.
R115W (p.Arg115Trp) variant details
- p.Arg115Trp
- rs1292756480
- NCI-TCGA Cosmic COSV9938
- cosmic curated COSV99383
- TOPMed rs1292756480
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.209
- REVEL 0.09
- CADD 24.00
- PolyPhen-2 0.85
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available