Y34H (p.Tyr34His) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
Y34H (p.Tyr34His) in PIEZO1 (Piezo-type mechanosensitive ion channel component 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
Y34H (p.Tyr34His) variant details
- p.Tyr34His
- gnomAD rs1213479161
- Missense
- Variant Prioritization Score for Impact Estimate 0.732
- REVEL 0.74
- ESM-1b 1.00
- AlphaMissense 0.83
- MetaLR 0.76
- MetaSVM 0.80
- CADD 26.70
- Most common in the HGDP:YORUBA population (allele frequency 0.024)
- Structural context available