W13R (p.Trp13Arg) variant of PANK2 (Q9BZ23)
W13R (p.Trp13Arg) in PANK2 (Q9BZ23) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Pigmentary pallidal degeneration. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
W13R (p.Trp13Arg) variant details
- p.Trp13Arg
- rs971003044
- ClinGen CA9750460
- ClinVar RCV000800323
- ClinVar RCV004028022
- Uncertain significance
- Inborn genetic diseases; Pigmentary pallidal degeneration
- Missense
- Variant Prioritization Score for Impact Estimate 0.44
- REVEL 0.39
- ESM-1b 0.00
- AlphaMissense 0.32
- MetaLR 0.70
- MetaSVM 0.06
- CADD 17.46
- ClinVar: Uncertain significance (Inborn genetic diseases; Pigmentary pallidal degeneration)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.0014)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)