C99F (p.Cys99Phe) variant of PHF6 (PHD finger protein 6)
C99F (p.Cys99Phe) 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 0.97 / 1. The record also includes published literature and structural context.
C99F (p.Cys99Phe) variant details
- p.Cys99Phe
- rs132630298
- ClinGen CA121318
- ClinVar RCV000011813
- UniProt VAR 017634
- Pathogenic
- Borjeson-Forssman-Lehmann syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.968
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.91
- 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)