C50R (p.Cys50Arg) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
C50R (p.Cys50Arg) in PIEZO1 (Piezo-type mechanosensitive ion channel component 1) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
C50R (p.Cys50Arg) variant details
- p.Cys50Arg
- TOPMed rs1906263798
- Likely benign
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.179
- REVEL 0.08
- ESM-1b 0.00
- AlphaMissense 0.06
- MetaLR 0.10
- MetaSVM -1.02
- CADD 10.30
- ClinVar: Likely benign (Inborn genetic diseases)
- UniProt: Likely benign
- Most common in the HGDP:BRAHUI population (allele frequency 0.065)
- Structural context available