S84T (p.Ser84Thr) variant of CDKN1C (P49918)
S84T (p.Ser84Thr) 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 0.54 / 1. The record also includes published literature and structural context.
S84T (p.Ser84Thr) variant details
- p.Ser84Thr
- rs1848970951
- ClinGen CA379147222
- ClinVar RCV003877865
- Uncertain significance
- Beckwith-Wiedemann syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.544
- AlphaMissense 0.44
- MetaLR 0.57
- MetaSVM -0.27
- PolyPhen-2 0.88
- SIFT 0.03
- EVE 0.50
- 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)