K234E (p.Lys234Glu) variant of PHF6 (PHD finger protein 6)
K234E (p.Lys234Glu) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes published literature and structural context.
K234E (p.Lys234Glu) variant details
- p.Lys234Glu
- rs104894917
- ClinGen CA121322
- ClinVar RCV000011814
- UniProt VAR 017636
- Pathogenic
- Borjeson-Forssman-Lehmann syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.72
- AlphaMissense 0.96
- MetaLR 0.72
- MetaSVM 0.41
- PolyPhen-2 0.99
- SIFT 0.82
- MutPred 0.81
- ClinVar: Pathogenic (Borjeson-Forssman-Lehmann syndrome)
- 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)