F44I (p.Phe44Ile) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
F44I (p.Phe44Ile) in PIEZO1 (Piezo-type mechanosensitive ion channel component 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
F44I (p.Phe44Ile) variant details
- p.Phe44Ile
- rs1046616013
- ClinGen CA286454566
- ClinVar RCV003728816
- TOPMed rs1046616013
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.143
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.18
- MetaLR 0.16
- MetaSVM -1.03
- CADD 11.40
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.0002)
- Structural context available