G93S (p.Gly93Ser) variant of PIEZO2 (Q9H5I5)
G93S (p.Gly93Ser) in PIEZO2 (Q9H5I5) 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 0.18 / 1. The record also includes structural context.
G93S (p.Gly93Ser) variant details
- p.Gly93Ser
- Ensembl rs1598775601
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.182
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.18
- MetaSVM -0.75
- CADD 18.84
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available