T9R (p.Thr9Arg) variant of CDKN1C (P49918)
T9R (p.Thr9Arg) in CDKN1C (P49918) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Beckwith-Wiedemann syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes published literature and structural context.
T9R (p.Thr9Arg) variant details
- p.Thr9Arg
- rs1300493378
- ClinGen CA379148000
- ClinVar RCV003009809
- Uncertain significance
- Beckwith-Wiedemann syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.418
- AlphaMissense 0.37
- MetaLR 0.30
- MetaSVM -0.79
- PolyPhen-2 0.28
- SIFT 0.08
- MutPred 0.21
- ClinVar: Uncertain significance (Beckwith-Wiedemann syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Wilms Tumor Predisposition. (PMID 20301471)
- Cited in: Beckwith-Wiedemann Syndrome. (PMID 20301568)