E773G (p.Glu773Gly) variant of AR (Androgen receptor)
E773G (p.Glu773Gly) in AR (Androgen receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Androgen resistance syndrome; Kennedy disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes published literature and structural context.
E773G (p.Glu773Gly) variant details
- p.Glu773Gly
- rs2076119092
- ClinGen CA413424808
- ClinVar RCV001991264
- Ensembl rs2076119092
- Likely pathogenic
- Androgen resistance syndrome; Kennedy disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.984
- AlphaMissense 0.96
- MetaLR 0.99
- MetaSVM 1.01
- SIFT 0.00
- ClinVar: Likely pathogenic (Androgen resistance syndrome; Kennedy disease)
- EBI: Pathogenic (in PAIS)
- UniProt: Pathogenic (in PAIS)
- Structural context available
- Cited in: Correlation of clinical, endocrine and molecular abnormalities with in vivo responses to high-dose testosterone in… (PMID 9196614)
- Cited in: Androgen Insensitivity Syndrome. (PMID 20301602)