V867M (p.Val867Met) variant of AR (Androgen receptor)
V867M (p.Val867Met) 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; AR-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
V867M (p.Val867Met) variant details
- p.Val867Met
- rs137852564
- ClinGen CA120683
- cosmic curated COSV65954
- ClinVar RCV000010480
- Pathogenic
- Kennedy disease; Androgen resistance syndrome; AR-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.641
- AlphaMissense 0.36
- MetaLR 0.94
- MetaSVM 1.08
- SIFT 0.64
- EVE 0.05
- ClinVar: Pathogenic (Kennedy disease; Androgen resistance syndrome; AR-related disord)
- EBI: Pathogenic (in AIS and prostate cancer)
- UniProt: Pathogenic (in AIS and prostate cancer)
- Population evidence available
- Structural context available
- Cited in: Sequence of the intron/exon junctions of the coding region of the human androgen receptor gene and identification of a… (PMID 2594783)
- Cited in: Androgen Insensitivity Syndrome. (PMID 20301602)