R73Q (p.Arg73Gln) variant of NEB (Nebulin)
R73Q (p.Arg73Gln) 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.
R73Q (p.Arg73Gln) variant details
- p.Arg73Gln
- rs727504037
- ClinGen CA234356
- cosmic curated COSV51352
- ClinVar RCV000153556
- Likely benign
- Missense
- REVEL 0.12
- MetaLR 0.02
- MetaSVM -0.91
- CADD 25.50
- PolyPhen-2 0.68
- SIFT 0.03
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- 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)