S86A (p.Ser86Ala) variant of CDKN1C (P49918)
S86A (p.Ser86Ala) 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 0.50 / 1. The record also includes published literature and structural context.
S86A (p.Ser86Ala) variant details
- p.Ser86Ala
- rs1848970693
- ClinGen CA379147198
- cosmic curated COSV10462
- ClinVar RCV001248015
- Uncertain significance
- Beckwith-Wiedemann syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.501
- AlphaMissense 0.12
- MetaLR 0.60
- MetaSVM -0.19
- PolyPhen-2 0.07
- SIFT 0.04
- EVE 0.61
- 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)