A56E (p.Ala56Glu) variant of NEB (Nebulin)
A56E (p.Ala56Glu) in NEB (Nebulin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The record also includes variant effect predictions, population frequency data, and experimental measurements.
A56E (p.Ala56Glu) variant details
- p.Ala56Glu
- rs1450050890
- ClinGen CA348795383
- ClinVar RCV003488130
- TOPMed rs1450050890
- Uncertain significance
- not provided
- Missense
- REVEL 0.01
- MetaLR 0.01
- MetaSVM -0.96
- CADD 0.00
- PolyPhen-2 0.01
- SIFT 0.77
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- NEB SH3 domain domainome 1.0: score -0.875