R58S (p.Arg58Ser) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
R58S (p.Arg58Ser) in PIEZO1 (Piezo-type mechanosensitive ion channel component 1) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes structural context.
R58S (p.Arg58Ser) variant details
- p.Arg58Ser
- ExAC rs778920824
- TOPMed rs778920824
- gnomAD rs778920824
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.0935
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.32
- EBI: Benign
- UniProt: Benign
- Structural context available