R775H (p.Arg775His) variant of AR (Androgen receptor)
R775H (p.Arg775His) 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 0.86 / 1. The record also includes published literature and structural context.
R775H (p.Arg775His) variant details
- p.Arg775His
- rs137852572
- ClinGen CA120712
- NCI-TCGA Cosmic COSV6595
- cosmic curated COSV65954
- Pathogenic
- Kennedy disease; Androgen resistance syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.861
- AlphaMissense 0.99
- MetaLR 0.93
- MetaSVM 1.07
- SIFT 0.00
- EVE 0.63
- ClinVar: Pathogenic (Kennedy disease; Androgen resistance syndrome; not provided)
- EBI: Pathogenic (in AIS and PAIS)
- UniProt: Pathogenic (in AIS and PAIS)
- 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: Replacement of arginine 773 by cysteine or histidine in the human androgen receptor causes complete androgen… (PMID 1609793)