H4Y (p.His4Tyr) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
H4Y (p.His4Tyr) 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 0.30 / 1. The record also includes population frequency data and structural context.
H4Y (p.His4Tyr) variant details
- p.His4Tyr
- TOPMed rs1908114771
- gnomAD rs1908114771
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- REVEL 0.21
- ESM-1b 0.00
- AlphaMissense 0.13
- MetaLR 0.30
- MetaSVM -0.48
- CADD 22.90
- Most common in the Latino/Admixed American population (allele frequency 0.00011)
- Structural context available