D108N (p.Asp108Asn) variant of BIN1 (O00499)
D108N (p.Asp108Asn) 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 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
D108N (p.Asp108Asn) variant details
- p.Asp108Asn
- rs532260569
- ClinGen CA55321367
- ClinVar RCV001928983
- TOPMed rs532260569
- Uncertain significance
- Myopathy, centronuclear, 2; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.473
- REVEL 0.28
- CADD 23.70
- PolyPhen-2 0.05
- SIFT 0.02
- ClinVar: Uncertain significance (Myopathy, centronuclear, 2; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available
- Cited in: Clinical utility gene card for: Centronuclear and myotubular myopathies. (PMID 22617344)