T47A (p.Thr47Ala) variant of NEB (Nebulin)
T47A (p.Thr47Ala) 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, experimental measurements, and published literature.
T47A (p.Thr47Ala) variant details
- p.Thr47Ala
- rs1348953506
- ClinGen CA348795618
- ClinVar RCV003628896
- gnomAD rs1348953506
- Likely benign
- Nemaline myopathy 2
- Missense
- REVEL 0.03
- MetaLR 0.01
- MetaSVM -0.93
- CADD 13.40
- PolyPhen-2 0.03
- SIFT 0.13
- ClinVar: Likely benign (Nemaline myopathy 2)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- NEB SH3 domain domainome 1.0: score -0.906
- Cited in: Clinical utility gene card for: nemaline myopathy. (PMID 22510848)