G709E (p.Gly709Glu) variant of AR (Androgen receptor)
G709E (p.Gly709Glu) in AR (Androgen receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Androgen resistance syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes published literature and structural context.
G709E (p.Gly709Glu) variant details
- p.Gly709Glu
- rs2147525149
- ClinGen CA413423469
- ClinVar RCV001848590
- Ensembl rs2147525149
- Pathogenic
- Androgen resistance syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.863
- AlphaMissense 1.00
- MetaLR 0.94
- MetaSVM 1.08
- SIFT 0.00
- EVE 0.63
- ClinVar: Pathogenic (Androgen resistance syndrome)
- EBI: Pathogenic (in AIS)
- UniProt: Pathogenic (in AIS)
- Structural context available
- Cited in: Androgen Insensitivity Syndrome. (PMID 20301602)