S45P (p.Ser45Pro) variant of NEB (Nebulin)
S45P (p.Ser45Pro) in NEB (Nebulin) is a missense change. The record also includes variant effect predictions, population frequency data, and experimental measurements.
S45P (p.Ser45Pro) variant details
- p.Ser45Pro
- gnomAD rs1433653842
- Missense
- REVEL 0.01
- MetaLR 0.01
- MetaSVM -0.94
- CADD 7.64
- PolyPhen-2 0.00
- SIFT 0.39
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- NEB SH3 domain domainome 1.0: score -0.253