T35M (p.Thr35Met) variant of NEB (Nebulin)
T35M (p.Thr35Met) in NEB (Nebulin) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes variant effect predictions, population frequency data, experimental measurements, and published literature.
T35M (p.Thr35Met) variant details
- p.Thr35Met
- rs749153659
- ClinGen CA1911992
- ClinVar RCV001247258
- ExAC rs749153659
- Likely benign
- Missense
- REVEL 0.18
- MetaLR 0.04
- MetaSVM -1.18
- CADD 24.90
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 1.7e-05)
- NEB SH3 domain domainome 1.0: score -0.52
- Cited in: Clinical utility gene card for: nemaline myopathy. (PMID 22510848)