A51T (p.Ala51Thr) variant of CDKN1C (P49918)
A51T (p.Ala51Thr) 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 0.60 / 1. The record also includes published literature and structural context.
A51T (p.Ala51Thr) variant details
- p.Ala51Thr
- rs1848975816
- ClinGen CA379147598
- ClinVar RCV003503455
- Uncertain significance
- Beckwith-Wiedemann syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.602
- AlphaMissense 0.99
- MetaLR 0.66
- MetaSVM -0.20
- PolyPhen-2 0.98
- SIFT 0.05
- EVE 0.62
- 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)