R30P (p.Arg30Pro) variant of PANK2 (Q9BZ23)
R30P (p.Arg30Pro) in PANK2 (Q9BZ23) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Pigmentary pallidal degeneration. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
R30P (p.Arg30Pro) variant details
- p.Arg30Pro
- rs748578547
- ClinGen CA9750479
- ClinVar RCV003504252
- Likely benign
- Pigmentary pallidal degeneration
- Missense
- Variant Prioritization Score for Impact Estimate 0.211
- REVEL 0.21
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.69
- MetaSVM -0.06
- CADD 3.87
- ClinVar: Likely benign (Pigmentary pallidal degeneration)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Ashkenazi Jewish 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)