R608Q (p.Arg608Gln) variant of AR (Androgen receptor)
R608Q (p.Arg608Gln) in AR (Androgen receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Kennedy disease; Androgen resistance syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes published literature and structural context.
R608Q (p.Arg608Gln) variant details
- p.Arg608Gln
- rs137852573
- ClinGen CA120715
- NCI-TCGA Cosmic COSV6595
- cosmic curated COSV65954
- Pathogenic/Likely pathogenic
- Kennedy disease; Androgen resistance syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.867
- AlphaMissense 1.00
- MetaLR 0.95
- MetaSVM 1.09
- SIFT 0.00
- EVE 0.63
- ClinVar: Pathogenic/Likely pathogenic (Kennedy disease; Androgen resistance syndrome; not provided)
- EBI: Pathogenic (in PAIS and breast cancer)
- UniProt: Pathogenic (in PAIS and breast cancer)
- Structural context available
- Cited in: A germline mutation in the androgen receptor gene in two brothers with breast cancer and Reifenstein syndrome. (PMID 1303262)
- Cited in: Response to androgen treatment in a patient with partial androgen insensitivity and a mutation in the deoxyribonucleic… (PMID 9543136)