M12L (p.Met12Leu) variant of CDKN1C (P49918)
M12L (p.Met12Leu) in CDKN1C (P49918) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in BWS. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes published literature and structural context.
M12L (p.Met12Leu) variant details
- p.Met12Leu
- rs483352966
- UniProt VAR 075200
- Ensembl rs483352966
- Uncertain significance
- in BWS
- Missense
- Variant Prioritization Score for Impact Estimate 0.459
- AlphaMissense 0.28
- MetaLR 0.36
- MetaSVM -0.67
- PolyPhen-2 0.01
- SIFT 0.25
- EVE 0.62
- EBI: Variant of uncertain significance (in BWS)
- UniProt: Uncertain significance (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)