S86* (p.Ser86Ter) variant of CDKN1C (P49918)
S86* (p.Ser86Ter) in CDKN1C (P49918) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes published literature and structural context.
S86* (p.Ser86Ter) variant details
- p.Ser86Ter
- rs897964106
- ClinGen CA379147195
- ClinVar RCV003030956
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.563
- AlphaMissense 0.35
- MetaLR 0.64
- MetaSVM -0.13
- PolyPhen-2 0.99
- SIFT 0.01
- EVE 0.50
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Wilms Tumor Predisposition. (PMID 20301471)
- Cited in: Beckwith-Wiedemann Syndrome. (PMID 20301568)