G5R (p.Gly5Arg) variant of CHD7 (Q9P2D1)
G5R (p.Gly5Arg) in CHD7 (Q9P2D1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hypogonadotropic hypogonadism 5 with or without anosmia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G5R (p.Gly5Arg) variant details
- p.Gly5Arg
- rs886063031
- ClinGen CA10625669
- ClinVar RCV000389791
- Ensembl rs886063031
- Uncertain significance
- Hypogonadotropic hypogonadism 5 with or without anosmia
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- REVEL 0.21
- MetaLR 0.20
- MetaSVM -0.69
- CADD 24.00
- PolyPhen-2 0.13
- SIFT 0.00
- ClinVar: Uncertain significance (Hypogonadotropic hypogonadism 5 with or without anosmia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- CHD7 BRK domain domainome 1.0: score -0.906
- Cited in: CHD7 Disorder. (PMID 20301296)
- Cited in: Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency. (PMID 20301509)