M82V (p.Met82Val) variant of NEB (Nebulin)
M82V (p.Met82Val) 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.
M82V (p.Met82Val) variant details
- p.Met82Val
- rs587780398
- ClinGen CA231317
- ClinVar RCV000117751
- ClinVar RCV000665601
- Uncertain significance
- Missense
- REVEL 0.14
- MetaLR 0.02
- MetaSVM -0.94
- CADD 23.50
- PolyPhen-2 0.37
- SIFT 0.22
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Cited in: Clinical utility gene card for: nemaline myopathy. (PMID 22510848)