E43A (p.Glu43Ala) variant of NEB (Nebulin)
E43A (p.Glu43Ala) in NEB (Nebulin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes variant effect predictions, population frequency data, experimental measurements, and published literature.
E43A (p.Glu43Ala) variant details
- p.Glu43Ala
- rs752660824
- ClinGen CA348795699
- ClinVar RCV001044446
- ExAC rs752660824
- Uncertain significance
- Missense
- REVEL 0.02
- MetaLR 0.01
- MetaSVM -0.99
- CADD 13.00
- PolyPhen-2 0.02
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- NEB SH3 domain domainome 1.0: score -0.795
- Cited in: Clinical utility gene card for: nemaline myopathy. (PMID 22510848)