R26* (p.Arg26Ter) variant of PIEZO2 (Q9H5I5)
R26* (p.Arg26Ter) in PIEZO2 (Q9H5I5) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
R26* (p.Arg26Ter) variant details
- p.Arg26Ter
- rs571918997
- ClinGen CA296610256
- cosmic curated COSV57449
- ClinVar RCV003313531
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.636
- CADD 39.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the 1KG:IBS population (allele frequency 0.0048)
- Structural context available