R832Q (p.Arg832Gln) variant of AR (Androgen receptor)
R832Q (p.Arg832Gln) in AR (Androgen receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Androgen resistance syndrome; Kennedy disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
R832Q (p.Arg832Gln) variant details
- p.Arg832Gln
- rs1386577803
- ClinGen CA413427711
- cosmic curated COSV10468
- ClinVar RCV000528841
- Pathogenic
- not provided; Androgen resistance syndrome; Kennedy disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.882
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.95
- SIFT 0.00
- EVE 0.64
- ClinVar: Pathogenic (not provided; Androgen resistance syndrome; Kennedy disease)
- EBI: Pathogenic (in AIS)
- UniProt: Pathogenic (in AIS)
- Population evidence available
- Structural context available
- Cited in: Point mutations in the steroid-binding domain of the androgen receptor gene of five Japanese patients with androgen… (PMID 10458483)
- Cited in: Functional characterization of naturally occurring mutant androgen receptors from subjects with complete androgen… (PMID 2082179)