A122S (p.Ala122Ser) variant of CDKN1C (P49918)
A122S (p.Ala122Ser) 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 0.39 / 1. The record also includes published literature and structural context.
A122S (p.Ala122Ser) variant details
- p.Ala122Ser
- rs551863674
- ClinGen CA379146852
- ClinVar RCV002942101
- Uncertain significance
- Beckwith-Wiedemann syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.394
- AlphaMissense 0.08
- MetaLR 0.41
- MetaSVM -0.66
- PolyPhen-2 0.00
- SIFT 0.02
- EVE 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)