L911F (p.Leu911Phe) variant of CHD7 (Q9P2D1)
L911F (p.Leu911Phe) in CHD7 (Q9P2D1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hypogonadotropic hypogonadism 5 with or without anosmia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes published literature and structural context.
L911F (p.Leu911Phe) variant details
- p.Leu911Phe
- rs886039881
- ClinGen CA10588928
- ClinVar RCV000256374
- Ensembl rs886039881
- Likely pathogenic
- Hypogonadotropic hypogonadism 5 with or without anosmia
- Missense
- Variant Prioritization Score for Impact Estimate 0.729
- AlphaMissense 0.91
- MetaLR 0.68
- MetaSVM 0.49
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.80
- ClinVar: Likely pathogenic (Hypogonadotropic hypogonadism 5 with or without anosmia)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: CHD7 Disorder. (PMID 20301296)
- Cited in: Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency. (PMID 20301509)