C23F (p.Cys23Phe) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
C23F (p.Cys23Phe) 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 0.36 / 1. The record also includes population frequency data and structural context.
C23F (p.Cys23Phe) variant details
- p.Cys23Phe
- gnomAD rs1339064718
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- REVEL 0.22
- ESM-1b 0.43
- AlphaMissense 0.55
- MetaLR 0.21
- MetaSVM -0.72
- CADD 22.50
- Most common in the HGDP:SARDINIAN population (allele frequency 0.056)
- Structural context available