F32I (p.Phe32Ile) variant of PIEZO2 (Q9H5I5)
F32I (p.Phe32Ile) in PIEZO2 (Q9H5I5) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
F32I (p.Phe32Ile) variant details
- p.Phe32Ile
- TOPMed rs748116550
- gnomAD rs748116550
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- REVEL 0.29
- ESM-1b 0.00
- AlphaMissense 0.28
- MetaLR 0.17
- MetaSVM -0.91
- CADD 26.10
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available