G54V (p.Gly54Val) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
G54V (p.Gly54Val) 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 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.
G54V (p.Gly54Val) variant details
- p.Gly54Val
- rs2507939414
- ClinGen CA397125329
- ClinVar RCV002742965
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.583
- REVEL 0.64
- ESM-1b 0.00
- AlphaMissense 0.34
- MetaLR 0.52
- MetaSVM 0.01
- CADD 32.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)