W246R (p.Trp246Arg) variant of PRPH2 (Peripherin-2)
W246R (p.Trp246Arg) in PRPH2 (Peripherin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Vitelliform macular dystrophy 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes published literature and structural context.
W246R (p.Trp246Arg) variant details
- p.Trp246Arg
- rs61755817
- ClinGen CA226307
- ClinVar RCV000085019
- ClinVar RCV000132580
- Likely pathogenic
- Vitelliform macular dystrophy 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.639
- AlphaMissense 0.93
- MetaLR 0.59
- MetaSVM 0.32
- SIFT 0.00
- MutPred 0.80
- ClinVar: Likely pathogenic (Vitelliform macular dystrophy 3)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)
- Cited in: Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). (PMID 22234150)