G68R (p.Gly68Arg) variant of PRPH2 (Peripherin-2)
G68R (p.Gly68Arg) in PRPH2 (Peripherin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
G68R (p.Gly68Arg) variant details
- p.Gly68Arg
- rs61755774
- ClinGen CA364138392
- ClinVar RCV001530297
- gnomAD rs61755774
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.87
- REVEL 0.93
- CADD 26.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided)
- EBI: Pathogenic (in MDPT1)
- UniProt: Pathogenic (in MDPT1)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Mutations and polymorphisms in the human peripherin-RDS gene and their involvement in inherited retinal degeneration. (PMID 8956033)
- Cited in: A novel mutation in the RDS gene in an Italian family with pattern dystrophy. (PMID 16024869)