G202E (p.Gly202Glu) variant of PRPH2 (Peripherin-2)
G202E (p.Gly202Glu) 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; Patterned macular dystrophy 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes structural context.
G202E (p.Gly202Glu) variant details
- p.Gly202Glu
- rs1800117660
- ClinGen CA364135755
- ClinVar RCV001247898
- ClinVar RCV001353008
- Pathogenic/Likely pathogenic
- PRPH2-related disorder; Patterned macular dystrophy 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- AlphaMissense 0.81
- MetaLR 0.04
- MetaSVM -1.15
- SIFT 0.00
- MutPred 0.78
- ClinVar: Pathogenic/Likely pathogenic (PRPH2-related disorder; Patterned macular dystrophy 1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available