D41E (p.Asp41Glu) variant of NEB (Nebulin)
D41E (p.Asp41Glu) in NEB (Nebulin) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Nemaline myopathy 2. The record also includes experimental measurements.
D41E (p.Asp41Glu) variant details
- p.Asp41Glu
- cosmic curated COSV10803
- Uncertain significance
- Nemaline myopathy 2
- Missense
- ClinVar: Uncertain significance (Nemaline myopathy 2)
- UniProt: Uncertain significance
- NEB SH3 domain domainome 1.0: score -0.0137