R856C (p.Arg856Cys) variant of AR (Androgen receptor)
R856C (p.Arg856Cys) 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 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
R856C (p.Arg856Cys) variant details
- p.Arg856Cys
- rs886041132
- ClinGen CA10603683
- cosmic curated COSV65961
- ClinVar RCV000294192
- Pathogenic
- Kennedy disease; Androgen resistance syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.886
- AlphaMissense 0.99
- MetaLR 0.97
- MetaSVM 1.09
- SIFT 0.00
- EVE 0.66
- ClinVar: Pathogenic (Kennedy disease; Androgen resistance syndrome; not provided)
- EBI: Pathogenic (in AIS)
- UniProt: Pathogenic (in AIS)
- Population evidence available
- Structural context available
- Cited in: Single base mutations in the human androgen receptor gene causing complete androgen insensitivity: rapid detection by a… (PMID 1480178)
- Cited in: Human androgen insensitivity due to point mutations encoding amino acid substitutions in the androgen receptor… (PMID 7581399)