L52R (p.Leu52Arg) variant of NEB (Nebulin)
L52R (p.Leu52Arg) in NEB (Nebulin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Nemaline myopathy 2. The record also includes variant effect predictions, experimental measurements, and published literature.
L52R (p.Leu52Arg) variant details
- p.Leu52Arg
- rs1349463332
- ClinGen CA348795434
- ClinVar RCV003037716
- Uncertain significance
- Nemaline myopathy 2
- Missense
- AlphaMissense 0.07
- MetaLR 0.01
- MetaSVM -0.95
- PolyPhen-2 0.00
- SIFT 0.00
- MutPred 0.32
- ClinVar: Uncertain significance (Nemaline myopathy 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- NEB SH3 domain domainome 1.0: score -0.136
- Cited in: Clinical utility gene card for: nemaline myopathy. (PMID 22510848)