A2E (p.Ala2Glu) variant of PRPH2 (Peripherin-2)
A2E (p.Ala2Glu) 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 0.28 / 1. The record also includes population frequency data and structural context.
A2E (p.Ala2Glu) variant details
- p.Ala2Glu
- ExAC rs761320905
- TOPMed rs761320905
- gnomAD rs761320905
- Uncertain significance
- PRPH2-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- REVEL 0.25
- CADD 23.40
- PolyPhen-2 0.94
- SIFT 0.00
- ClinVar: Uncertain significance (PRPH2-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available