V18L (p.Val18Leu) variant of NEB (Nebulin)
V18L (p.Val18Leu) 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, experimental measurements, and published literature.
V18L (p.Val18Leu) variant details
- p.Val18Leu
- rs2150994592
- ClinGen CA348796975
- ClinVar RCV001365556
- Ensembl rs2150994592
- Uncertain significance
- Missense
- REVEL 0.03
- MetaLR 0.01
- MetaSVM -0.91
- CADD 17.50
- PolyPhen-2 0.01
- SIFT 0.10
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00031)
- NEB SH3 domain domainome 1.0: score -0.182
- Cited in: Clinical utility gene card for: nemaline myopathy. (PMID 22510848)