T8M (p.Thr8Met) variant of CUL3 (Cullin-3)
T8M (p.Thr8Met) in CUL3 (Cullin-3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Pseudohypoaldosteronism type 2E; Neurodevelopmental disorder with or without aut. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
T8M (p.Thr8Met) variant details
- p.Thr8Met
- TOPMed rs1034800855
- gnomAD rs1034800855
- Uncertain significance
- Pseudohypoaldosteronism type 2E; Neurodevelopmental disorder with or without aut
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- REVEL 0.14
- CADD 23.40
- PolyPhen-2 0.14
- SIFT 0.02
- ClinVar: Uncertain significance (Pseudohypoaldosteronism type 2E; Neurodevelopmental disorder wit)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available