R46* (p.Arg46Ter) variant of PRPH2 (Peripherin-2)
R46* (p.Arg46Ter) in PRPH2 (Peripherin-2) 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 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
R46* (p.Arg46Ter) variant details
- p.Arg46Ter
- rs61755771
- ClinGen CA226209
- ClinVar RCV000014067
- ClinVar RCV000084955
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.624
- CADD 36.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Cited in: Extensive intrafamilial and interfamilial phenotypic variation among patients with autosomal dominant retinal dystrophy… (PMID 7880786)
- Cited in: Heterozygous 'null allele' mutation in the human peripherin/RDS gene. (PMID 8111389)