R220P (p.Arg220Pro) variant of PRPH2 (Peripherin-2)
R220P (p.Arg220Pro) in PRPH2 (Peripherin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of PRPH2-related disorder; Retinal dystrophy; Patterned dystrophy of the retinal pi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes published literature and structural context.
R220P (p.Arg220Pro) variant details
- p.Arg220Pro
- rs61755810
- ClinGen CA364135472
- ClinVar RCV001067304
- ClinVar RCV001250311
- Pathogenic/Likely pathogenic
- PRPH2-related disorder; Retinal dystrophy; Patterned dystrophy of the retinal pi
- Missense
- Variant Prioritization Score for Impact Estimate 0.797
- AlphaMissense 0.77
- MetaLR 0.79
- MetaSVM 0.59
- SIFT 0.00
- MutPred 0.75
- ClinVar: Pathogenic/Likely pathogenic (PRPH2-related disorder; Retinal dystrophy; Patterned dystrophy o)
- EBI: Pathogenic (in MDPT1)
- UniProt: Pathogenic (in MDPT1)
- Structural context available
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)
- Cited in: Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). (PMID 22234150)