L11R (p.Leu11Arg) variant of NOTCH1 (P46531)
L11R (p.Leu11Arg) in NOTCH1 (P46531) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The record also includes variant effect predictions and structural context.
L11R (p.Leu11Arg) variant details
- p.Leu11Arg
- rs2133408615
- ClinGen CA375579841
- ClinVar RCV001751993
- Ensembl rs2133408615
- Uncertain significance
- not provided
- Missense
- MetaLR 0.37
- MetaSVM -0.78
- PolyPhen-2 0.00
- SIFT 0.01
- MutPred 0.42
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available