L27I (p.Leu27Ile) variant of PANK2 (Q9BZ23)
L27I (p.Leu27Ile) 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; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
L27I (p.Leu27Ile) variant details
- p.Leu27Ile
- rs1427393180
- ClinGen CA408138674
- ClinVar RCV002038366
- ClinVar RCV004956180
- Uncertain significance
- Pigmentary pallidal degeneration; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.235
- REVEL 0.17
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.64
- MetaSVM -0.16
- CADD 7.89
- ClinVar: Uncertain significance (Pigmentary pallidal degeneration; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- 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)