R775C (p.Arg775Cys) variant of AR (Androgen receptor)
R775C (p.Arg775Cys) in AR (Androgen receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Kennedy disease; Androgen resistance syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes published literature and structural context.
R775C (p.Arg775Cys) variant details
- p.Arg775Cys
- rs137852562
- ClinGen CA120701
- cosmic curated COSV65965
- ClinVar RCV000010478
- Pathogenic
- Kennedy disease; Androgen resistance syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.855
- AlphaMissense 1.00
- MetaLR 0.93
- MetaSVM 1.07
- SIFT 0.00
- EVE 0.61
- ClinVar: Pathogenic (Kennedy disease; Androgen resistance syndrome; not provided)
- EBI: Pathogenic (in AIS)
- UniProt: Pathogenic (in AIS)
- Structural context available
- Cited in: Replacement of arginine 773 by cysteine or histidine in the human androgen receptor causes complete androgen… (PMID 1609793)
- Cited in: Androgen resistance associated with a mutation of the androgen receptor at amino acid 772 (Arg----Cys) results from a… (PMID 1856263)