L26F (p.Leu26Phe) variant of PANK2 (Q9BZ23)
L26F (p.Leu26Phe) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
L26F (p.Leu26Phe) variant details
- p.Leu26Phe
- rs1178275314
- ClinGen CA9750474
- ClinVar RCV002724711
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- REVEL 0.25
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.73
- MetaSVM 0.12
- CADD 10.95
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00013)
- 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)