S834F (p.Ser834Phe) variant of CHD7 (Q9P2D1)
S834F (p.Ser834Phe) in CHD7 (Q9P2D1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of HYPOGONADOTROPIC HYPOGONADISM 5 WITHOUT ANOSMIA; CHARGE syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes published literature and structural context.
S834F (p.Ser834Phe) variant details
- p.Ser834Phe
- rs121434344
- ClinGen CA130114
- ClinVar RCV000002111
- ClinVar RCV000030798
- Pathogenic
- HYPOGONADOTROPIC HYPOGONADISM 5 WITHOUT ANOSMIA; CHARGE syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.758
- AlphaMissense 1.00
- MetaLR 0.70
- MetaSVM 0.52
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.79
- ClinVar: Pathogenic (HYPOGONADOTROPIC HYPOGONADISM 5 WITHOUT ANOSMIA; CHARGE syndrome)
- EBI: Pathogenic (in HH5)
- UniProt: Pathogenic (in HH5)
- Structural context available
- Cited in: Familial CHARGE syndrome because of CHD7 mutation: clinical intra- and interfamilial variability. (PMID 17661815)
- Cited in: Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann… (PMID 18834967)