R86P (p.Arg86Pro) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
R86P (p.Arg86Pro) 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 0.12 / 1. The record also includes population frequency data and structural context.
R86P (p.Arg86Pro) variant details
- p.Arg86Pro
- ExAC rs764666122
- TOPMed rs764666122
- gnomAD rs764666122
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.124
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.10
- MetaSVM -1.00
- CADD 7.22
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:FIN population (allele frequency 0.0051)
- Structural context available