C82R (p.Cys82Arg) variant of NOTCH3 (Q9UM47)
C82R (p.Cys82Arg) 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 0.98 / 1. The record also includes structural context.
C82R (p.Cys82Arg) variant details
- p.Cys82Arg
- rs2046937845
- ClinGen CA404535085
- ClinVar RCV001663844
- ClinVar RCV004738356
- Pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.984
- AlphaMissense 0.98
- MetaLR 0.99
- MetaSVM 0.97
- PolyPhen-2 0.94
- SIFT 0.00
- MutPred 0.98
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available