D605G (p.Asp605Gly) variant of AR (Androgen receptor)
D605G (p.Asp605Gly) 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; Kennedy disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes published literature and structural context.
D605G (p.Asp605Gly) variant details
- p.Asp605Gly
- rs1555990478
- ClinGen CA413429231
- ClinVar RCV000584497
- ClinVar RCV002530822
- Pathogenic
- Androgen resistance syndrome; Kennedy disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.863
- AlphaMissense 1.00
- MetaLR 0.94
- MetaSVM 1.08
- SIFT 0.00
- EVE 0.62
- ClinVar: Pathogenic (Androgen resistance syndrome; Kennedy disease)
- EBI: Pathogenic (in PAIS)
- UniProt: Pathogenic (in PAIS)
- Structural context available
- Cited in: Androgen Insensitivity Syndrome. (PMID 20301602)
- Cited in: Spinal and Bulbar Muscular Atrophy. (PMID 20301508)