W13* (p.Trp13Ter) variant of PANK2 (Q9BZ23)
W13* (p.Trp13Ter) in PANK2 (Q9BZ23) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
W13* (p.Trp13Ter) variant details
- p.Trp13Ter
- rs2515419501
- ClinGen CA408138399
- ClinVar RCV002599153
- ClinVar RCV004818226
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.488
- CADD 19.06
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 2.8e-06)
- Structural context available
- Cited in: Pantothenate Kinase-Associated Neurodegeneration. (PMID 20301663)
- Cited in: Neurodegeneration with Brain Iron Accumulation Disorders Overview. (PMID 23447832)