A114V (p.Ala114Val) variant of NEB (Nebulin)
A114V (p.Ala114Val) in NEB (Nebulin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Nemaline myopathy 2. The record also includes variant effect predictions, population frequency data, and published literature.
A114V (p.Ala114Val) variant details
- p.Ala114Val
- rs1243797690
- ClinGen CA348793704
- ClinVar RCV003629796
- TOPMed rs1243797690
- Likely benign
- Nemaline myopathy 2
- Missense
- REVEL 0.13
- MetaLR 0.03
- MetaSVM -1.01
- CADD 23.40
- PolyPhen-2 0.37
- SIFT 0.37
- ClinVar: Likely benign (Nemaline myopathy 2)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Cited in: Clinical utility gene card for: nemaline myopathy. (PMID 22510848)