T51S (p.Thr51Ser) variant of PIEZO2 (Q9H5I5)
T51S (p.Thr51Ser) 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 0.36 / 1. The record also includes population frequency data and structural context.
T51S (p.Thr51Ser) variant details
- p.Thr51Ser
- TOPMed rs778506919
- gnomAD rs778506919
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.36
- REVEL 0.26
- ESM-1b 0.00
- AlphaMissense 0.20
- MetaLR 0.25
- MetaSVM -0.76
- CADD 21.10
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00017)
- Structural context available