A4V (p.Ala4Val) variant of CDKN1C (P49918)
A4V (p.Ala4Val) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
A4V (p.Ala4Val) variant details
- p.Ala4Val
- rs201368350
- ClinGen CA5822253
- ClinVar RCV000628528
- ClinVar RCV001814202
- Uncertain significance
- Beckwith-Wiedemann syndrome; IMAGe syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- CADD 15.80
- SIFT 1.00
- ClinVar: Uncertain significance (Beckwith-Wiedemann syndrome; IMAGe syndrome; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:GBR population (allele frequency 0.0057)
- Structural context available
- Cited in: Wilms Tumor Predisposition. (PMID 20301471)
- Cited in: Beckwith-Wiedemann Syndrome. (PMID 20301568)