V109L (p.Val109Leu) variant of CDKN1C (P49918)
V109L (p.Val109Leu) 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 0.43 / 1. The record also includes published literature and structural context.
V109L (p.Val109Leu) variant details
- p.Val109Leu
- rs2133785299
- ClinGen CA379146932
- ClinVar RCV003850145
- Uncertain significance
- Beckwith-Wiedemann syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.427
- AlphaMissense 0.14
- MetaLR 0.45
- MetaSVM -0.67
- PolyPhen-2 0.18
- SIFT 0.43
- EVE 0.19
- 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)