S20P (p.Ser20Pro) variant of PANK2 (Q9BZ23)
S20P (p.Ser20Pro) 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 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
S20P (p.Ser20Pro) variant details
- p.Ser20Pro
- rs573337848
- ClinGen CA9750469
- ClinVar RCV003056792
- Uncertain significance
- Pigmentary pallidal degeneration
- Missense
- Variant Prioritization Score for Impact Estimate 0.24
- REVEL 0.24
- ESM-1b 0.00
- AlphaMissense 0.06
- MetaLR 0.68
- MetaSVM -0.08
- CADD 8.77
- ClinVar: Uncertain significance (Pigmentary pallidal degeneration)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 6.7e-05)
- Structural context available
- Cited in: Pantothenate Kinase-Associated Neurodegeneration. (PMID 20301663)
- Cited in: Neurodegeneration with Brain Iron Accumulation Disorders Overview. (PMID 23447832)