E4K (p.Glu4Lys) variant of PIEZO2 (Q9H5I5)
E4K (p.Glu4Lys) in PIEZO2 (Q9H5I5) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes structural context.
E4K (p.Glu4Lys) variant details
- p.Glu4Lys
- TOPMed rs1276813954
- Likely pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- REVEL 0.22
- ESM-1b 0.00
- AlphaMissense 0.57
- MetaLR 0.30
- MetaSVM -0.60
- CADD 29.50
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available