Y42C (p.Tyr42Cys) variant of NEB (Nebulin)
Y42C (p.Tyr42Cys) 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, experimental measurements, and published literature.
Y42C (p.Tyr42Cys) variant details
- p.Tyr42Cys
- rs756162358
- ClinGen CA1911991
- ClinVar RCV001245384
- ClinVar RCV005682558
- Likely benign
- Missense
- REVEL 0.08
- MetaLR 0.02
- MetaSVM -0.92
- CADD 27.10
- PolyPhen-2 0.52
- SIFT 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- NEB SH3 domain domainome 1.0: score -0.471
- 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)