P120S (p.Pro120Ser) variant of NEB (Nebulin)
P120S (p.Pro120Ser) in NEB (Nebulin) is a missense change. The record also includes variant effect predictions and population frequency data.
P120S (p.Pro120Ser) variant details
- p.Pro120Ser
- TOPMed rs1379863774
- gnomAD rs1379863774
- Missense
- REVEL 0.50
- MetaLR 0.52
- MetaSVM 0.03
- CADD 24.70
- PolyPhen-2 0.33
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 0.00031)