R123C (p.Arg123Cys) variant of NEB (Nebulin)
R123C (p.Arg123Cys) 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, and published literature.
R123C (p.Arg123Cys) variant details
- p.Arg123Cys
- rs200555425
- ClinGen CA1911929
- cosmic curated COSV50807
- ClinVar RCV000641390
- Uncertain significance
- Missense
- REVEL 0.27
- MetaLR 0.30
- MetaSVM -0.59
- CADD 26.70
- PolyPhen-2 0.97
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- 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)