L19F (p.Leu19Phe) variant of PANK2 (Q9BZ23)
L19F (p.Leu19Phe) 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 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
L19F (p.Leu19Phe) variant details
- p.Leu19Phe
- rs1568549056
- ClinGen CA408138516
- ClinVar RCV001927977
- Uncertain significance
- Pigmentary pallidal degeneration
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- REVEL 0.38
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.76
- MetaSVM 0.28
- CADD 14.26
- ClinVar: Uncertain significance (Pigmentary pallidal degeneration)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 6.4e-06)
- Structural context available
- Cited in: Pantothenate Kinase-Associated Neurodegeneration. (PMID 20301663)
- Cited in: Neurodegeneration with Brain Iron Accumulation Disorders Overview. (PMID 23447832)