P70L (p.Pro70Leu) variant of CDKN1C (P49918)
P70L (p.Pro70Leu) in CDKN1C (P49918) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Beckwith-Wiedemann syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
P70L (p.Pro70Leu) variant details
- p.Pro70Leu
- rs483352970
- ClinGen CA216367420
- ClinVar RCV001269845
- ClinVar RCV003502515
- Pathogenic/Likely pathogenic
- not provided; Beckwith-Wiedemann syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.898
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.95
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.62
- ClinVar: Pathogenic/Likely pathogenic (not provided; Beckwith-Wiedemann syndrome)
- EBI: Pathogenic (in BWS)
- UniProt: Pathogenic (in BWS)
- Structural context available
- Cited in: Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith-Wiedemann Syndrome: Clinical Spectrum and… (PMID 26077438)
- Cited in: Analysis of germline CDKN1C (p57KIP2) mutations in familial and sporadic Beckwith-Wiedemann syndrome (BWS) provides a… (PMID 10424811)