A114T (p.Ala114Thr) variant of NEB (Nebulin)
A114T (p.Ala114Thr) in NEB (Nebulin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; Nemaline myopathy 2. The record also includes variant effect predictions, population frequency data, and published literature.
A114T (p.Ala114Thr) variant details
- p.Ala114Thr
- rs779928749
- ClinGen CA1911932
- ClinVar RCV000499586
- ClinVar RCV002524232
- Conflicting interpretations
- not specified; Nemaline myopathy 2
- Missense
- REVEL 0.09
- MetaLR 0.01
- MetaSVM -0.92
- CADD 16.40
- PolyPhen-2 0.05
- SIFT 0.21
- ClinVar: Conflicting classifications of pathogenicity (not specified; Nemaline myopathy 2)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Cited in: Clinical utility gene card for: nemaline myopathy. (PMID 22510848)