F32L (p.Phe32Leu) variant of PIEZO2 (Q9H5I5)
F32L (p.Phe32Leu) in PIEZO2 (Q9H5I5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
F32L (p.Phe32Leu) variant details
- p.Phe32Leu
- rs748116550
- ClinGen CA296610251
- ClinVar RCV002887758
- TOPMed rs748116550
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.29
- REVEL 0.12
- ESM-1b 0.00
- AlphaMissense 0.61
- MetaLR 0.12
- MetaSVM -0.97
- CADD 24.70
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3.2e-05)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)