G5E (p.Gly5Glu) variant of PANK2 (Q9BZ23)
G5E (p.Gly5Glu) in PANK2 (Q9BZ23) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Pigmentary pallidal degeneration. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
G5E (p.Gly5Glu) variant details
- p.Gly5Glu
- rs748405977
- ClinGen CA9750455
- ClinVar RCV002629673
- Uncertain significance
- Pigmentary pallidal degeneration
- Missense
- Variant Prioritization Score for Impact Estimate 0.205
- REVEL 0.17
- ESM-1b 0.00
- AlphaMissense 0.12
- MetaLR 0.69
- MetaSVM -0.07
- CADD 7.00
- ClinVar: Uncertain significance (Pigmentary pallidal degeneration)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00058)
- Structural context available
- Cited in: Pantothenate Kinase-Associated Neurodegeneration. (PMID 20301663)
- Cited in: Neurodegeneration with Brain Iron Accumulation Disorders Overview. (PMID 23447832)