R128C (p.Arg128Cys) variant of CUL3 (Cullin-3)
R128C (p.Arg128Cys) in CUL3 (Cullin-3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Neurodevelopmental disorder with or without autism or seizures. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes structural context.
R128C (p.Arg128Cys) variant details
- p.Arg128Cys
- rs2106223782
- ClinGen CA350832344
- cosmic curated COSV52372
- ClinVar RCV003129281
- Pathogenic/Likely pathogenic
- not provided; Neurodevelopmental disorder with or without autism or seizures
- Missense
- Variant Prioritization Score for Impact Estimate 0.536
- AlphaMissense 1.00
- MetaLR 0.40
- MetaSVM 0.05
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.64
- ClinVar: Pathogenic/Likely pathogenic (not provided; Neurodevelopmental disorder with or without autism)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available