E56G (p.Glu56Gly) variant of PRPH2 (Peripherin-2)
E56G (p.Glu56Gly) in PRPH2 (Peripherin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Patterned macular dystrophy 1; Choroidal dystrophy, cen. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
E56G (p.Glu56Gly) variant details
- p.Glu56Gly
- rs1351857575
- ClinGen CA364138588
- ClinVar RCV001158411
- ClinVar RCV001158412
- Uncertain significance
- Inborn genetic diseases; Patterned macular dystrophy 1; Choroidal dystrophy, cen
- Missense
- Variant Prioritization Score for Impact Estimate 0.47
- REVEL 0.35
- CADD 24.80
- PolyPhen-2 0.92
- SIFT 0.17
- ClinVar: Uncertain significance (Inborn genetic diseases; Patterned macular dystrophy 1; Choroida)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). (PMID 22234150)
- Cited in: Cone rod dystrophies. (PMID 17270046)