S94L (p.Ser94Leu) variant of NOTCH2 (Q04721)
S94L (p.Ser94Leu) in NOTCH2 (Q04721) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes variant effect predictions and structural context.
S94L (p.Ser94Leu) variant details
- p.Ser94Leu
- NCI-TCGA TCGA novel
- Ensembl rs2101242712
- Variant assessed as somatic; moderate impact.
- Missense
- MetaLR 0.08
- MetaSVM -0.99
- SIFT 0.48
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available