S62L (p.Ser62Leu) variant of NEB (Nebulin)
S62L (p.Ser62Leu) 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, and published literature.
S62L (p.Ser62Leu) variant details
- p.Ser62Leu
- rs764417105
- ClinGen CA1911978
- cosmic curated COSV50901
- ClinVar RCV001128709
- Uncertain significance
- Missense
- REVEL 0.07
- MetaLR 0.01
- MetaSVM -0.92
- CADD 16.10
- PolyPhen-2 0.07
- SIFT 0.10
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Cited in: Clinical utility gene card for: nemaline myopathy. (PMID 22510848)