R120W (p.Arg120Trp) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
R120W (p.Arg120Trp) in PIEZO1 (Piezo-type mechanosensitive ion channel component 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
R120W (p.Arg120Trp) variant details
- p.Arg120Trp
- rs778223284
- ClinGen CA397123954
- ClinVar RCV004503589
- ClinVar RCV005065164
- Conflicting interpretations
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.576
- REVEL 0.57
- ESM-1b 0.69
- AlphaMissense 0.12
- MetaLR 0.39
- MetaSVM -0.31
- CADD 25.60
- ClinVar: Conflicting classifications of pathogenicity (not provided; Inborn genetic diseases)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:BIAKA population (allele frequency 0.023)
- 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)