E103Q (p.Glu103Gln) variant of NEB (Nebulin)
E103Q (p.Glu103Gln) in NEB (Nebulin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Nemaline myopathy 2; Inborn genetic diseases. The record also includes variant effect predictions, population frequency data, and published literature.
E103Q (p.Glu103Gln) variant details
- p.Glu103Gln
- rs372579696
- ClinGen CA1911939
- ClinVar RCV002904829
- ClinVar RCV003134538
- Conflicting interpretations
- not provided; Nemaline myopathy 2; Inborn genetic diseases
- Missense
- REVEL 0.06
- MetaLR 0.21
- MetaSVM -0.82
- CADD 22.30
- PolyPhen-2 0.37
- SIFT 0.07
- ClinVar: Conflicting classifications of pathogenicity (not provided; Nemaline myopathy 2; Inborn genetic diseases)
- EBI: Benign
- UniProt: Benign
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)