D114E (p.Asp114Glu) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
D114E (p.Asp114Glu) in PIEZO1 (Piezo-type mechanosensitive ion channel component 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
D114E (p.Asp114Glu) variant details
- p.Asp114Glu
- gnomAD rs1412945837
- Missense
- Variant Prioritization Score for Impact Estimate 0.211
- REVEL 0.17
- ESM-1b 0.00
- AlphaMissense 0.54
- MetaLR 0.11
- MetaSVM -1.07
- CADD 17.40
- Most common in the 1KG:YRI population (allele frequency 0.0043)
- Structural context available