A8E (p.Ala8Glu) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
A8E (p.Ala8Glu) 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 0.40 / 1. The record also includes population frequency data and structural context.
A8E (p.Ala8Glu) variant details
- p.Ala8Glu
- gnomAD rs1324467727
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- REVEL 0.32
- ESM-1b 0.26
- AlphaMissense 0.51
- MetaLR 0.23
- MetaSVM -0.75
- CADD 22.80
- Most common in the HGDP:SARDINIAN population (allele frequency 0.056)
- Structural context available