D151N (p.Asp151Asn) variant of BIN1 (O00499)
D151N (p.Asp151Asn) in BIN1 (O00499) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Myopathy, centronuclear, 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
D151N (p.Asp151Asn) variant details
- p.Asp151Asn
- rs121909274
- ClinGen CA119459
- NCI-TCGA Cosmic COSV5211
- cosmic curated COSV52115
- Pathogenic
- Myopathy, centronuclear, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.833
- REVEL 0.85
- CADD 29.10
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Pathogenic (Myopathy, centronuclear, 2)
- EBI: Pathogenic (in CNM2)
- UniProt: Pathogenic (in CNM2)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear… (PMID 17676042)
- Cited in: Mutations in BIN1 associated with centronuclear myopathy disrupt membrane remodeling by affecting protein density and… (PMID 24755653)