H229R (p.His229Arg) variant of PHF6 (PHD finger protein 6)
H229R (p.His229Arg) 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 0.79 / 1. The record also includes published literature and structural context.
H229R (p.His229Arg) variant details
- p.His229Arg
- rs104894918
- ClinGen CA121330
- ClinVar RCV000011816
- UniProt VAR 017635
- Pathogenic
- Borjeson-Forssman-Lehmann syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.794
- AlphaMissense 0.96
- MetaLR 0.74
- MetaSVM 0.65
- PolyPhen-2 0.98
- SIFT 0.03
- EVE 0.79
- 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)