I749T (p.Ile749Thr) variant of CUL3 (Cullin-3)
I749T (p.Ile749Thr) in CUL3 (Cullin-3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Neurodevelopmental disorder with or without autism or seizures. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
I749T (p.Ile749Thr) variant details
- p.Ile749Thr
- rs1559332999
- ClinGen CA350820307
- ClinVar RCV000722722
- ClinVar RCV004597556
- Likely pathogenic
- Neurodevelopmental disorder with or without autism or seizures
- Missense
- Variant Prioritization Score for Impact Estimate 0.828
- REVEL 0.95
- CADD 27.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Neurodevelopmental disorder with or without autism or seizures)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available