I119L (p.Ile119Leu) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
I119L (p.Ile119Leu) 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; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
I119L (p.Ile119Leu) variant details
- p.Ile119Leu
- rs984135890
- ClinGen CA286441364
- ClinVar RCV003220293
- ClinVar RCV005636868
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.161
- REVEL 0.15
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.16
- MetaSVM -1.00
- CADD 8.27
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 9.8e-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)