E4D (p.Glu4Asp) variant of PIEZO2 (Q9H5I5)
E4D (p.Glu4Asp) in PIEZO2 (Q9H5I5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
E4D (p.Glu4Asp) variant details
- p.Glu4Asp
- rs2040869213
- ClinGen CA402030476
- ClinVar RCV003845547
- TOPMed rs2040869213
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.181
- REVEL 0.11
- ESM-1b 0.00
- AlphaMissense 0.52
- MetaLR 0.23
- MetaSVM -0.87
- CADD 21.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3.2e-05)
- Structural context available