V25M (p.Val25Met) variant of CDKN1C (P49918)
V25M (p.Val25Met) 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; IMAGe syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
V25M (p.Val25Met) variant details
- p.Val25Met
- rs758244300
- ClinGen CA5822247
- cosmic curated COSV10643
- ClinVar RCV000794106
- Uncertain significance
- Beckwith-Wiedemann syndrome; IMAGe syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.434
- AlphaMissense 0.37
- MetaLR 0.42
- MetaSVM -0.50
- PolyPhen-2 0.57
- SIFT 0.01
- EVE 0.19
- ClinVar: Uncertain significance (Beckwith-Wiedemann syndrome; IMAGe 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)