P78S (p.Pro78Ser) variant of NEB (Nebulin)
P78S (p.Pro78Ser) in NEB (Nebulin) is a missense change. The record also includes variant effect predictions and population frequency data.
P78S (p.Pro78Ser) variant details
- p.Pro78Ser
- cosmic curated COSV51470
- gnomAD rs2099795522
- Missense
- REVEL 0.02
- MetaLR 0.00
- MetaSVM -0.91
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)