E5K (p.Glu5Lys) variant of NEB (Nebulin)
E5K (p.Glu5Lys) 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.
E5K (p.Glu5Lys) variant details
- p.Glu5Lys
- rs374390581
- ClinGen CA1912042
- cosmic curated COSV10438
- ClinVar RCV000396002
- Uncertain significance
- Missense
- REVEL 0.12
- MetaLR 0.02
- MetaSVM -1.02
- CADD 29.20
- PolyPhen-2 0.27
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00015)
- NEB SH3 domain domainome 1.0: score -0.141
- 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)