E46K (p.Glu46Lys) variant of PIEZO2 (Q9H5I5)
E46K (p.Glu46Lys) in PIEZO2 (Q9H5I5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
E46K (p.Glu46Lys) variant details
- p.Glu46Lys
- TOPMed rs2038142229
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- REVEL 0.22
- ESM-1b 0.00
- AlphaMissense 0.80
- MetaLR 0.25
- MetaSVM -0.79
- CADD 27.90
- Population evidence available
- Structural context available