R86G (p.Arg86Gly) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
R86G (p.Arg86Gly) in PIEZO1 (Piezo-type mechanosensitive ion channel component 1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes structural context.
R86G (p.Arg86Gly) variant details
- p.Arg86Gly
- TOPMed rs1043456779
- gnomAD rs1043456779
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.163
- REVEL 0.12
- ESM-1b 0.00
- AlphaMissense 0.07
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available