V11L (p.Val11Leu) variant of NEB (Nebulin)
V11L (p.Val11Leu) 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, experimental measurements, and published literature.
V11L (p.Val11Leu) variant details
- p.Val11Leu
- rs371035828
- ClinGen CA1912041
- ClinVar RCV003093407
- ESP rs371035828
- Likely benign
- Nemaline myopathy 2
- Missense
- REVEL 0.03
- MetaLR 0.01
- MetaSVM -0.94
- CADD 21.80
- PolyPhen-2 0.02
- SIFT 0.05
- ClinVar: Likely benign (Nemaline myopathy 2)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 0.00031)
- NEB SH3 domain domainome 1.0: score -0.191
- Cited in: Clinical utility gene card for: nemaline myopathy. (PMID 22510848)