A112V (p.Ala112Val) variant of CDKN1C (P49918)
A112V (p.Ala112Val) 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 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
A112V (p.Ala112Val) variant details
- p.Ala112Val
- rs1176153874
- ClinGen CA379146908
- cosmic curated COSV57832
- ClinVar RCV003829474
- Uncertain significance
- Beckwith-Wiedemann syndrome; IMAGe syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- REVEL 0.16
- CADD 12.00
- PolyPhen-2 0.01
- SIFT 0.07
- 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)