Q825K (p.Gln825Lys) variant of AR (Androgen receptor)
Q825K (p.Gln825Lys) in AR (Androgen receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Kennedy disease; Androgen resistance syndrome; AR-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes published literature and structural context.
Q825K (p.Gln825Lys) variant details
- p.Gln825Lys
- rs2147537756
- ClinGen CA413427575
- ClinVar RCV003404520
- ClinVar RCV003778233
- Likely pathogenic
- Kennedy disease; Androgen resistance syndrome; AR-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.722
- AlphaMissense 0.23
- MetaLR 0.93
- MetaSVM 1.07
- SIFT 0.00
- EVE 0.65
- ClinVar: Likely pathogenic (Kennedy disease; Androgen resistance syndrome; AR-related disord)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Androgen Insensitivity Syndrome. (PMID 20301602)
- Cited in: Spinal and Bulbar Muscular Atrophy. (PMID 20301508)