G51S (p.Gly51Ser) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
G51S (p.Gly51Ser) in PIEZO1 (Piezo-type mechanosensitive ion channel component 1) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
G51S (p.Gly51Ser) variant details
- p.Gly51Ser
- 1000Genomes rs866172473
- TOPMed rs866172473
- gnomAD rs866172473
- Likely benign
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.0924
- REVEL 0.03
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.10
- MetaSVM -1.01
- CADD 1.03
- ClinVar: Likely benign (Inborn genetic diseases)
- UniProt: Likely benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 5.6e-05)
- Structural context available