L160F (p.Leu160Phe) variant of BIN1 (O00499)
L160F (p.Leu160Phe) in BIN1 (O00499) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Myopathy, centronuclear, 2; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
L160F (p.Leu160Phe) variant details
- p.Leu160Phe
- rs1685511003
- ClinGen CA348367727
- ClinVar RCV001242608
- ClinVar RCV002564035
- Uncertain significance
- Myopathy, centronuclear, 2; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.502
- REVEL 0.42
- CADD 26.30
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (Myopathy, centronuclear, 2; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2.3e-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)