M12R (p.Met12Arg) variant of CDKN1C (P49918)
M12R (p.Met12Arg) 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 0.53 / 1. The record also includes published literature and structural context.
M12R (p.Met12Arg) variant details
- p.Met12Arg
- rs2133786665
- ClinGen CA379147983
- ClinVar RCV002018616
- Uncertain significance
- Beckwith-Wiedemann syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.529
- AlphaMissense 0.69
- MetaLR 0.47
- MetaSVM -0.14
- PolyPhen-2 0.87
- SIFT 0.00
- EVE 0.62
- ClinVar: Uncertain significance (Beckwith-Wiedemann syndrome)
- EBI: Variant of uncertain significance (in BWS)
- UniProt: Uncertain significance (in BWS)
- Structural context available
- Cited in: Wilms Tumor Predisposition. (PMID 20301471)
- Cited in: Beckwith-Wiedemann Syndrome. (PMID 20301568)