I119M (p.Ile119Met) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
I119M (p.Ile119Met) 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 0.19 / 1. The record also includes population frequency data and structural context.
I119M (p.Ile119Met) variant details
- p.Ile119Met
- TOPMed rs1255996250
- gnomAD rs1255996250
- Missense
- Variant Prioritization Score for Impact Estimate 0.187
- REVEL 0.12
- ESM-1b 0.00
- AlphaMissense 0.13
- MetaLR 0.11
- MetaSVM -1.06
- CADD 15.00
- Most common in the HGDP:SAN population (allele frequency 1)
- Structural context available