L831F (p.Leu831Phe) variant of AR (Androgen receptor)
L831F (p.Leu831Phe) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes published literature and structural context.
L831F (p.Leu831Phe) variant details
- p.Leu831Phe
- rs1202166699
- ClinGen CA413427697
- ClinVar RCV003783775
- gnomAD rs1202166699
- Pathogenic
- Kennedy disease; Androgen resistance syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.759
- AlphaMissense 0.45
- MetaLR 0.92
- MetaSVM 1.00
- SIFT 0.00
- EVE 0.50
- ClinVar: Pathogenic (Kennedy disease; Androgen resistance syndrome)
- EBI: Pathogenic (in prostate cancer)
- UniProt: Pathogenic (in prostate cancer)
- Structural context available
- Cited in: Androgen Insensitivity Syndrome. (PMID 20301602)
- Cited in: Spinal and Bulbar Muscular Atrophy. (PMID 20301508)