N18K (p.Asn18Lys) variant of MTOR (P42345)
N18K (p.Asn18Lys) in MTOR (P42345) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes variant effect predictions and structural context.
N18K (p.Asn18Lys) variant details
- p.Asn18Lys
- ExAC rs766795299
- TOPMed rs766795299
- gnomAD rs766795299
- Likely benign
- Missense
- MetaLR 0.02
- MetaSVM -0.98
- SIFT 0.01
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available