M1L (p.Met1Leu) variant of NOTCH1 (P46531)
M1L (p.Met1Leu) in NOTCH1 (P46531) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The record also includes variant effect predictions and structural context.
M1L (p.Met1Leu) variant details
- p.Met1Leu
- rs2133408684
- ClinGen CA375579939
- ClinVar RCV001782535
- Likely pathogenic
- not provided
- Missense
- MetaLR 0.19
- MetaSVM -0.90
- PolyPhen-2 0.00
- SIFT 0.55
- MutPred 0.69
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available