C50F (p.Cys50Phe) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
C50F (p.Cys50Phe) 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 0.12 / 1. The record also includes population frequency data and structural context.
C50F (p.Cys50Phe) variant details
- p.Cys50Phe
- TOPMed rs1190557735
- gnomAD rs1190557735
- Missense
- Variant Prioritization Score for Impact Estimate 0.12
- REVEL 0.10
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.13
- MetaSVM -0.98
- CADD 0.04
- Most common in the 1KG:CDX population (allele frequency 0.017)
- Structural context available