I86T (p.Ile86Thr) variant of NEB (Nebulin)
I86T (p.Ile86Thr) in NEB (Nebulin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Nemaline myopathy 2. The record also includes variant effect predictions, population frequency data, and published literature.
I86T (p.Ile86Thr) variant details
- p.Ile86Thr
- rs754008028
- ClinGen CA1911965
- ClinVar RCV003026597
- ExAC rs754008028
- Likely benign
- Nemaline myopathy 2
- Missense
- REVEL 0.29
- MetaLR 0.22
- MetaSVM -0.71
- CADD 26.30
- PolyPhen-2 0.84
- SIFT 0.01
- ClinVar: Likely benign (Nemaline myopathy 2)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Cited in: Clinical utility gene card for: nemaline myopathy. (PMID 22510848)