P36L (p.Pro36Leu) variant of CDKN1C (P49918)
P36L (p.Pro36Leu) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes published literature and structural context.
P36L (p.Pro36Leu) variant details
- p.Pro36Leu
- rs1564930749
- ClinGen CA379147749
- ClinVar RCV003079110
- Uncertain significance
- Inborn genetic diseases; Beckwith-Wiedemann syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.795
- AlphaMissense 0.96
- MetaLR 0.88
- MetaSVM 0.93
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.43
- ClinVar: Uncertain significance (Inborn genetic diseases; Beckwith-Wiedemann syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Wilms Tumor Predisposition. (PMID 20301471)
- Cited in: Beckwith-Wiedemann Syndrome. (PMID 20301568)