Y37H (p.Tyr37His) variant of PIEZO2 (Q9H5I5)
Y37H (p.Tyr37His) 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 0.58 / 1. The record also includes population frequency data and structural context.
Y37H (p.Tyr37His) variant details
- p.Tyr37His
- TOPMed rs2038142839
- gnomAD rs2038142839
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.583
- REVEL 0.58
- ESM-1b 0.69
- AlphaMissense 0.70
- MetaLR 0.32
- MetaSVM -0.39
- CADD 27.50
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.0002)
- Structural context available