V904L (p.Val904Leu) variant of AR (Androgen receptor)
V904L (p.Val904Leu) 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 Androgen resistance syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes published literature and structural context.
V904L (p.Val904Leu) variant details
- p.Val904Leu
- rs2147540656
- ClinGen CA413428388
- ClinVar RCV001808075
- Ensembl rs2147540656
- Pathogenic/Likely pathogenic
- Androgen resistance syndrome
- 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: Pathogenic/Likely pathogenic (Androgen resistance syndrome)
- EBI: Pathogenic (in PAIS)
- UniProt: Pathogenic (in PAIS)
- Structural context available
- Cited in: Androgen Insensitivity Syndrome. (PMID 20301602)