R89H (p.Arg89His) variant of PIEZO2 (Q9H5I5)
R89H (p.Arg89His) in PIEZO2 (Q9H5I5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
R89H (p.Arg89His) variant details
- p.Arg89His
- ESP rs368872771
- ExAC rs368872771
- TOPMed rs368872771
- gnomAD rs368872771
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.229
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.15
- MetaSVM -0.96
- CADD 18.92
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available