E9K (p.Glu9Lys) variant of NEB (Nebulin)
E9K (p.Glu9Lys) 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, experimental measurements, and published literature.
E9K (p.Glu9Lys) variant details
- p.Glu9Lys
- rs2151148401
- ClinGen CA348797598
- ClinVar RCV002045398
- ClinVar RCV005375014
- Uncertain significance
- Missense
- AlphaMissense 0.53
- MetaLR 0.03
- MetaSVM -1.10
- PolyPhen-2 0.99
- SIFT 0.00
- MutPred 0.38
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- NEB SH3 domain domainome 1.0: score -0.791
- 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)