A24E (p.Ala24Glu) variant of PIEZO2 (Q9H5I5)
A24E (p.Ala24Glu) 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 0.54 / 1. The record also includes population frequency data and structural context.
A24E (p.Ala24Glu) variant details
- p.Ala24Glu
- ExAC rs759000106
- TOPMed rs759000106
- gnomAD rs759000106
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.54
- REVEL 0.37
- ESM-1b 1.00
- AlphaMissense 0.86
- MetaLR 0.21
- MetaSVM -0.66
- CADD 27.30
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available