C45Y (p.Cys45Tyr) variant of PHF6 (PHD finger protein 6)
C45Y (p.Cys45Tyr) in PHF6 (PHD finger protein 6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Borjeson-Forssman-Lehmann syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
C45Y (p.Cys45Tyr) variant details
- p.Cys45Tyr
- rs132630299
- ClinGen CA121326
- ClinVar RCV000011815
- ClinVar RCV004700218
- Pathogenic
- Borjeson-Forssman-Lehmann syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.899
- AlphaMissense 1.00
- MetaLR 0.84
- MetaSVM 0.91
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.91
- ClinVar: Pathogenic (Borjeson-Forssman-Lehmann syndrome; not provided)
- EBI: Pathogenic (in BFLS)
- UniProt: Pathogenic (in BFLS)
- Structural context available
- Cited in: Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome. (PMID 12415272)
- Cited in: PHF6 regulates cell cycle progression by suppressing ribosomal RNA synthesis. (PMID 23229552)