S86L (p.Ser86Leu) variant of CDKN1C (P49918)
S86L (p.Ser86Leu) 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 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
S86L (p.Ser86Leu) variant details
- p.Ser86Leu
- rs897964106
- ClinGen CA379147197
- ClinVar RCV003611347
- gnomAD rs897964106
- Uncertain significance
- Beckwith-Wiedemann syndrome
- Missense
- 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
- ClinVar: Uncertain significance (Beckwith-Wiedemann syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Wilms Tumor Predisposition. (PMID 20301471)
- Cited in: Beckwith-Wiedemann Syndrome. (PMID 20301568)