S62A (p.Ser62Ala) variant of NEB (Nebulin)
S62A (p.Ser62Ala) in NEB (Nebulin) is a missense change. The record also includes variant effect predictions and population frequency data.
S62A (p.Ser62Ala) variant details
- p.Ser62Ala
- TOPMed rs2099795609
- Missense
- REVEL 0.02
- MetaLR 0.01
- MetaSVM -0.94
- CADD 0.72
- PolyPhen-2 0.01
- SIFT 1.00
- Most common in the South Asian population (allele frequency 1.2e-05)