L42V (p.Leu42Val) variant of CDKN1C (P49918)
L42V (p.Leu42Val) 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 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
L42V (p.Leu42Val) variant details
- p.Leu42Val
- rs2133786240
- ClinGen CA379147684
- ClinVar RCV003612467
- Uncertain significance
- Beckwith-Wiedemann syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.735
- AlphaMissense 0.77
- MetaLR 0.73
- MetaSVM 0.58
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.58
- 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)