H74Y (p.His74Tyr) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
H74Y (p.His74Tyr) 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 0.56 / 1. The record also includes population frequency data and structural context.
H74Y (p.His74Tyr) variant details
- p.His74Tyr
- gnomAD rs1905737307
- Missense
- Variant Prioritization Score for Impact Estimate 0.558
- REVEL 0.44
- ESM-1b 1.00
- AlphaMissense 0.49
- MetaLR 0.22
- MetaSVM -0.79
- CADD 24.50
- Most common in the Latino/Admixed American population (allele frequency 0.00011)
- Structural context available