N17K (p.Asn17Lys) variant of BIN1 (O00499)
N17K (p.Asn17Lys) 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 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
N17K (p.Asn17Lys) variant details
- p.Asn17Lys
- rs2105378914
- ClinGen CA348376190
- ClinVar RCV001895160
- Ensembl rs2105378914
- Uncertain significance
- Myopathy, centronuclear, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.223
- REVEL 0.23
- CADD 22.00
- PolyPhen-2 0.05
- SIFT 0.02
- ClinVar: Uncertain significance (Myopathy, centronuclear, 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Clinical utility gene card for: Centronuclear and myotubular myopathies. (PMID 22617344)