R68K (p.Arg68Lys) variant of NEB (Nebulin)
R68K (p.Arg68Lys) in NEB (Nebulin) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes variant effect predictions, population frequency data, and published literature.
R68K (p.Arg68Lys) variant details
- p.Arg68Lys
- rs1014627144
- ClinGen CA16617249
- cosmic curated COSV51157
- ClinVar RCV000484147
- Likely benign
- Missense
- REVEL 0.21
- MetaLR 0.04
- MetaSVM -1.03
- CADD 18.40
- PolyPhen-2 0.98
- SIFT 0.06
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Middle Eastern population (allele frequency 0.00017)
- 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)