H4R (p.His4Arg) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
H4R (p.His4Arg) 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 0.27 / 1. The record also includes population frequency data and structural context.
H4R (p.His4Arg) variant details
- p.His4Arg
- 1000Genomes rs1226032010
- TOPMed rs1226032010
- gnomAD rs1226032010
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- REVEL 0.23
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.25
- MetaSVM -0.64
- CADD 20.30
- Most common in the HGDP:PATHAN population (allele frequency 0.14)
- Structural context available