Y85C (p.Tyr85Cys) variant of NEB (Nebulin)
Y85C (p.Tyr85Cys) 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.
Y85C (p.Tyr85Cys) variant details
- p.Tyr85Cys
- rs1201662596
- ClinGen CA348794636
- ClinVar RCV002019864
- gnomAD rs1201662596
- Uncertain significance
- Missense
- REVEL 0.28
- MetaLR 0.23
- MetaSVM -0.69
- CADD 28.70
- PolyPhen-2 1.00
- SIFT 0.05
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Cited in: Clinical utility gene card for: nemaline myopathy. (PMID 22510848)