S97N (p.Ser97Asn) variant of NEB (Nebulin)
S97N (p.Ser97Asn) in NEB (Nebulin) is a missense change. The record also includes variant effect predictions and population frequency data.
S97N (p.Ser97Asn) variant details
- p.Ser97Asn
- gnomAD rs1287259842
- Missense
- REVEL 0.50
- MetaLR 0.67
- MetaSVM 0.31
- CADD 25.60
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)