A2E (p.Ala2Glu) variant of CHD7 (Q9P2D1)
A2E (p.Ala2Glu) 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 0.42 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A2E (p.Ala2Glu) variant details
- p.Ala2Glu
- rs1809000474
- ClinGen CA371294999
- ClinVar RCV001329009
- Ensembl rs1809000474
- Likely pathogenic
- Hypogonadotropic hypogonadism 5 with or without anosmia
- Missense
- Variant Prioritization Score for Impact Estimate 0.418
- REVEL 0.24
- MetaLR 0.14
- MetaSVM -0.85
- CADD 23.20
- PolyPhen-2 0.12
- SIFT 0.00
- ClinVar: Likely pathogenic (Hypogonadotropic hypogonadism 5 with or without anosmia)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- CHD7 BRK domain domainome 1.0: score -0.472
- Cited in: CHD7 Disorder. (PMID 20301296)
- Cited in: Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency. (PMID 20301509)