L6P (p.Leu6Pro) variant of CDKN1C (P49918)
L6P (p.Leu6Pro) in CDKN1C (P49918) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Beckwith-Wiedemann syndrome; IMAGe syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
L6P (p.Leu6Pro) variant details
- p.Leu6Pro
- rs201715947
- ClinGen CA5822252
- ClinVar RCV000456489
- ClinVar RCV002523286
- Uncertain significance
- Inborn genetic diseases; Beckwith-Wiedemann syndrome; IMAGe syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.624
- CADD 22.70
- SIFT 0.05
- ClinVar: Uncertain significance (Inborn genetic diseases; Beckwith-Wiedemann syndrome; IMAGe synd)
- 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)