L53P (p.Leu53Pro) variant of CDKN1C (P49918)
L53P (p.Leu53Pro) in CDKN1C (P49918) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in BWS. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes published literature and structural context.
L53P (p.Leu53Pro) variant details
- p.Leu53Pro
- rs483352968
- UniProt VAR 075201
- Ensembl rs483352968
- Pathogenic
- in BWS
- Missense
- Variant Prioritization Score for Impact Estimate 0.606
- AlphaMissense 1.00
- MetaLR 0.60
- MetaSVM 0.11
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.61
- 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)