R49* (p.Arg49Ter) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
R49* (p.Arg49Ter) in PIEZO1 (Piezo-type mechanosensitive ion channel component 1) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
R49* (p.Arg49Ter) variant details
- p.Arg49Ter
- rs1166469802
- ClinGen CA397127854
- ClinVar RCV002637435
- TOPMed rs1166469802
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.377
- CADD 38.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available