R86H (p.Arg86His) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
R86H (p.Arg86His) in PIEZO1 (Piezo-type mechanosensitive ion channel component 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not provided. 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.
R86H (p.Arg86His) variant details
- p.Arg86His
- rs764666122
- ClinGen CA397124930
- ClinVar RCV003544822
- ExAC rs764666122
- Benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.123
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.06
- MetaLR 0.10
- MetaSVM -1.11
- CADD 6.73
- ClinVar: Benign (not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:TUSCAN population (allele frequency 1)
- Structural context available