H82R (p.His82Arg) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
H82R (p.His82Arg) in PIEZO1 (Piezo-type mechanosensitive ion channel component 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
H82R (p.His82Arg) variant details
- p.His82Arg
- rs377204641
- ClinGen CA286442467
- ClinVar RCV003131933
- TOPMed rs377204641
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- REVEL 0.18
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.17
- MetaSVM -1.00
- CADD 16.80
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CDX population (allele frequency 0.017)
- Structural context available