T9I (p.Thr9Ile) variant of CDKN1C (P49918)
T9I (p.Thr9Ile) 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; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
T9I (p.Thr9Ile) variant details
- p.Thr9Ile
- rs1300493378
- ClinGen CA379148002
- ClinVar RCV002013909
- ClinVar RCV002492347
- Uncertain significance
- Beckwith-Wiedemann syndrome; IMAGe syndrome; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.454
- REVEL 0.35
- MetaLR 0.66
- MetaSVM 0.24
- CADD 24.20
- PolyPhen-2 0.94
- SIFT 0.02
- ClinVar: Uncertain significance (Beckwith-Wiedemann syndrome; IMAGe syndrome; Inborn genetic dise)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Wilms Tumor Predisposition. (PMID 20301471)
- Cited in: Beckwith-Wiedemann Syndrome. (PMID 20301568)