R154Q (p.Arg154Gln) variant of BIN1 (O00499)
R154Q (p.Arg154Gln) in BIN1 (O00499) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Myopathy, centronuclear, 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
R154Q (p.Arg154Gln) variant details
- p.Arg154Gln
- rs267606681
- ClinGen CA119462
- ClinVar RCV000008798
- UniProt VAR 081083
- Conflicting interpretations
- Myopathy, centronuclear, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.736
- REVEL 0.69
- CADD 29.10
- PolyPhen-2 0.67
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Myopathy, centronuclear, 2)
- EBI: Pathogenic (in CNM2)
- UniProt: Pathogenic (in CNM2)
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Phenotype of a patient with recessive centronuclear myopathy and a novel BIN1 mutation. (PMID 20142620)
- Cited in: Mutations in BIN1 associated with centronuclear myopathy disrupt membrane remodeling by affecting protein density and… (PMID 24755653)