R3* (p.Arg3Ter) variant of PCDH15 (Protocadherin-15)
R3* (p.Arg3Ter) in PCDH15 (Protocadherin-15) 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 0.85 / 1. The record also includes population frequency data and published literature.
R3* (p.Arg3Ter) variant details
- p.Arg3Ter
- rs137853001
- ClinGen CA253340
- NCI-TCGA Cosmic COSV5728
- cosmic curated COSV57282
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.855
- CADD 37.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 9e-05)
- Cited in: Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F. (PMID 11398101)
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)