R856H (p.Arg856His) variant of AR (Androgen receptor)
R856H (p.Arg856His) 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; Male infertility. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes published literature and structural context.
R856H (p.Arg856His) variant details
- p.Arg856His
- rs9332971
- ClinGen CA120721
- cosmic curated COSV10101
- ClinVar RCV000010497
- Pathogenic/Likely pathogenic
- Kennedy disease; Androgen resistance syndrome; Male infertility
- Missense
- Variant Prioritization Score for Impact Estimate 0.892
- AlphaMissense 0.93
- MetaLR 0.97
- MetaSVM 1.09
- SIFT 0.01
- EVE 0.68
- ClinVar: Pathogenic/Likely pathogenic (Kennedy disease; Androgen resistance syndrome; Male infertility)
- EBI: Pathogenic (in AIS)
- UniProt: Pathogenic (in AIS)
- Structural context available
- Cited in: Human androgen receptor gene ligand-binding-domain mutations leading to disrupted interaction between the N- and… (PMID 16595706)
- Cited in: Mutations of the androgen receptor gene identified in perineal hypospadias. (PMID 8097257)