C305F (p.Cys305Phe) variant of PHF6 (PHD finger protein 6)
C305F (p.Cys305Phe) 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 0.95 / 1. The record also includes published literature and structural context.
C305F (p.Cys305Phe) variant details
- p.Cys305Phe
- rs587777489
- ClinGen CA163262
- ClinVar RCV000128447
- UniProt VAR 076933
- Pathogenic
- Borjeson-Forssman-Lehmann syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.955
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.90
- ClinVar: Pathogenic (Borjeson-Forssman-Lehmann syndrome)
- EBI: Pathogenic (in BFLS)
- UniProt: Pathogenic (in BFLS)
- Structural context available
- Cited in: A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and… (PMID 23906836)
- Cited in: Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome. (PMID 12415272)