H1801N (p.His1801Asn) variant of CHD7 (Q9P2D1)
H1801N (p.His1801Asn) 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 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
H1801N (p.His1801Asn) variant details
- p.His1801Asn
- rs1131692039
- ClinGen CA371321340
- ClinVar RCV000494710
- Ensembl rs1131692039
- Likely pathogenic
- Hypogonadotropic hypogonadism 5 with or without anosmia
- Missense
- Variant Prioritization Score for Impact Estimate 0.79
- REVEL 0.75
- AlphaMissense 0.93
- MetaLR 0.87
- MetaSVM 0.90
- CADD 25.10
- PolyPhen-2 1.00
- ClinVar: Likely pathogenic (Hypogonadotropic hypogonadism 5 with or without anosmia)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- Cited in: CHD7 Disorder. (PMID 20301296)
- Cited in: Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency. (PMID 20301509)