E21K (p.Glu21Lys) variant of NEB (Nebulin)
E21K (p.Glu21Lys) 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.
E21K (p.Glu21Lys) variant details
- p.Glu21Lys
- rs199907781
- ClinGen CA1912016
- cosmic curated COSV51469
- ClinVar RCV000550343
- Uncertain significance
- Missense
- REVEL 0.06
- MetaLR 0.01
- MetaSVM -0.98
- CADD 25.00
- PolyPhen-2 0.05
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- NEB SH3 domain domainome 1.0: score -0.941
- Cited in: Clinical utility gene card for: nemaline myopathy. (PMID 22510848)