R753Q (p.Arg753Gln) variant of AR (Androgen receptor)
R753Q (p.Arg753Gln) 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 Differences in sex development; Androgen resistance syndrome; Kennedy disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes published literature and structural context.
R753Q (p.Arg753Gln) variant details
- p.Arg753Gln
- rs1057523747
- ClinGen CA413424670
- cosmic curated COSV65964
- ClinVar RCV000583865
- Pathogenic/Likely pathogenic
- Differences in sex development; Androgen resistance syndrome; Kennedy disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.887
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.94
- SIFT 0.00
- EVE 0.65
- ClinVar: Pathogenic/Likely pathogenic (Differences in sex development; Androgen resistance syndrome; Ke)
- EBI: Pathogenic (in AIS)
- UniProt: Pathogenic (in AIS)
- Structural context available
- Cited in: Molecular analysis of the androgen receptor gene in 4 patients with complete androgen insensitivity. (PMID 9544375)
- Cited in: Mutations of androgen receptor gene in Brazilian patients with male pseudohermaphroditism. (PMID 9698822)