I86N (p.Ile86Asn) variant of NEB (Nebulin)
I86N (p.Ile86Asn) in NEB (Nebulin) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes variant effect predictions and population frequency data.
I86N (p.Ile86Asn) variant details
- p.Ile86Asn
- ExAC rs754008028
- TOPMed rs754008028
- gnomAD rs754008028
- Likely benign
- Missense
- REVEL 0.30
- MetaLR 0.22
- MetaSVM -0.71
- CADD 27.90
- PolyPhen-2 0.96
- SIFT 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)