R13W (p.Arg13Trp) variant of PRPH2 (Peripherin-2)
R13W (p.Arg13Trp) in PRPH2 (Peripherin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of PRPH2-related disorder; Retinal dystrophy; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
R13W (p.Arg13Trp) variant details
- p.Arg13Trp
- rs61754402
- ClinGen CA226230
- ClinVar RCV000084967
- ClinVar RCV001078785
- Conflicting interpretations
- PRPH2-related disorder; Retinal dystrophy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.53
- REVEL 0.50
- CADD 24.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (PRPH2-related disorder; Retinal dystrophy; not provided)
- EBI: Pathogenic (in RP7)
- UniProt: Pathogenic (in RP7)
- Most common in the HGDP:YI population (allele frequency 0.05)
- 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: Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). (PMID 22234150)