D84E (p.Asp84Glu) variant of PRPH2 (Peripherin-2)
D84E (p.Asp84Glu) in PRPH2 (Peripherin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of PRPH2-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
D84E (p.Asp84Glu) variant details
- p.Asp84Glu
- rs139936445
- ClinGen CA3808645
- ClinVar RCV001227963
- 1000Genomes rs139936445
- Uncertain significance
- PRPH2-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.318
- REVEL 0.51
- CADD 0.15
- PolyPhen-2 0.93
- SIFT 0.03
- ClinVar: Uncertain significance (PRPH2-related disorder)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available