N52S (p.Asn52Ser) variant of BIN1 (O00499)
N52S (p.Asn52Ser) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
N52S (p.Asn52Ser) variant details
- p.Asn52Ser
- rs369549551
- ClinGen CA1857584
- ClinVar RCV002009891
- ESP rs369549551
- Uncertain significance
- Myopathy, centronuclear, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.37
- REVEL 0.27
- CADD 27.40
- PolyPhen-2 0.90
- SIFT 0.04
- ClinVar: Uncertain significance (Myopathy, centronuclear, 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available
- Cited in: Clinical utility gene card for: Centronuclear and myotubular myopathies. (PMID 22617344)