F96S (p.Phe96Ser) variant of NEB (Nebulin)
F96S (p.Phe96Ser) in NEB (Nebulin) is a missense change. The record also includes variant effect predictions and population frequency data.
F96S (p.Phe96Ser) variant details
- p.Phe96Ser
- ExAC rs753157636
- gnomAD rs753157636
- Missense
- REVEL 0.18
- MetaLR 0.20
- MetaSVM -0.81
- CADD 25.50
- PolyPhen-2 0.98
- SIFT 0.06
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)