C55R (p.Cys55Arg) variant of NOTCH3 (Q9UM47)
C55R (p.Cys55Arg) in NOTCH3 (Q9UM47) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes structural context.
C55R (p.Cys55Arg) variant details
- p.Cys55Arg
- rs1568363980
- ClinGen CA404483376
- ClinVar RCV000710994
- Ensembl rs1568363980
- Pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.969
- AlphaMissense 0.91
- MetaLR 1.00
- MetaSVM 0.96
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.99
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available