H4Q (p.His4Gln) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
H4Q (p.His4Gln) 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 0.24 / 1. The record also includes population frequency data and structural context.
H4Q (p.His4Gln) variant details
- p.His4Gln
- TOPMed rs1009719451
- gnomAD rs1009719451
- Missense
- Variant Prioritization Score for Impact Estimate 0.242
- REVEL 0.22
- ESM-1b 0.00
- AlphaMissense 0.19
- MetaLR 0.23
- MetaSVM -0.84
- CADD 13.10
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available