T51K (p.Thr51Lys) variant of PIEZO2 (Q9H5I5)
T51K (p.Thr51Lys) in PIEZO2 (Q9H5I5) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
T51K (p.Thr51Lys) variant details
- p.Thr51Lys
- ESP rs371432372
- ExAC rs371432372
- TOPMed rs371432372
- gnomAD rs371432372
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.466
- REVEL 0.37
- ESM-1b 0.00
- AlphaMissense 0.86
- MetaLR 0.41
- MetaSVM -0.25
- CADD 22.60
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available