R61W (p.Arg61Trp) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
R61W (p.Arg61Trp) in PIEZO1 (Piezo-type mechanosensitive ion channel component 1) 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 0.28 / 1. The record also includes population frequency data and structural context.
R61W (p.Arg61Trp) variant details
- p.Arg61Trp
- rs755174284
- ExAC rs755174284
- TOPMed rs755174284
- gnomAD rs755174284
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- REVEL 0.24
- ESM-1b 0.00
- AlphaMissense 0.13
- MetaLR 0.18
- MetaSVM -0.83
- CADD 23.40
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:PATHAN population (allele frequency 0.14)
- Structural context available