A112T (p.Ala112Thr) variant of CDKN1C (P49918)
A112T (p.Ala112Thr) in CDKN1C (P49918) is a missense change. Clinical records from ClinVar 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 0.23 / 1. The record also includes population frequency data and structural context.
A112T (p.Ala112Thr) variant details
- p.Ala112Thr
- NCI-TCGA TCGA novel
- Uncertain significance
- Beckwith-Wiedemann syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.229
- REVEL 0.17
- CADD 14.90
- PolyPhen-2 0.01
- SIFT 0.26
- ClinVar: Uncertain significance (Beckwith-Wiedemann syndrome)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available