A118G (p.Ala118Gly) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
A118G (p.Ala118Gly) 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 PIEZO1-related disorder; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
A118G (p.Ala118Gly) variant details
- p.Ala118Gly
- rs1161679299
- ClinGen CA397123964
- ClinVar RCV003399639
- ClinVar RCV004961274
- Uncertain significance
- PIEZO1-related disorder; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- REVEL 0.18
- ESM-1b 0.00
- AlphaMissense 0.15
- MetaLR 0.12
- MetaSVM -1.02
- CADD 14.30
- ClinVar: Uncertain significance (PIEZO1-related disorder; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.0015)
- 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)