E17V (p.Glu17Val) variant of NEB (Nebulin)
E17V (p.Glu17Val) in NEB (Nebulin) is a missense change. The record also includes variant effect predictions, population frequency data, and experimental measurements.
E17V (p.Glu17Val) variant details
- p.Glu17Val
- TOPMed rs1290381958
- gnomAD rs1290381958
- Missense
- REVEL 0.12
- MetaLR 0.04
- MetaSVM -1.09
- CADD 34.00
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- NEB SH3 domain domainome 1.0: score -0.438