V904M (p.Val904Met) variant of AR (Androgen receptor)
V904M (p.Val904Met) in AR (Androgen receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Androgen resistance syndrome; Kennedy disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes published literature and structural context.
V904M (p.Val904Met) variant details
- p.Val904Met
- rs2147540656
- ClinGen CA413428386
- ClinVar RCV003050617
- Ensembl rs2147540656
- Likely pathogenic
- Androgen resistance syndrome; Kennedy disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.719
- AlphaMissense 0.85
- MetaLR 0.95
- MetaSVM 1.06
- SIFT 0.31
- EVE 0.16
- ClinVar: Likely pathogenic (Androgen resistance syndrome; Kennedy disease)
- EBI: Pathogenic (in PAIS)
- UniProt: Pathogenic (in PAIS)
- Structural context available
- Cited in: Mutations in the ligand-binding domain of the androgen receptor gene cluster in two regions of the gene. (PMID 1430233)
- Cited in: Androgen Insensitivity Syndrome. (PMID 20301602)