L839I (p.Leu839Ile) variant of AR (Androgen receptor)
L839I (p.Leu839Ile) in AR (Androgen receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Androgen resistance syndrome; Kennedy disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes published literature and structural context.
L839I (p.Leu839Ile) variant details
- p.Leu839Ile
- rs2147537918
- ClinGen CA413427858
- ClinVar RCV001963282
- Ensembl rs2147537918
- Pathogenic
- Androgen resistance syndrome; Kennedy disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.871
- AlphaMissense 0.98
- MetaLR 1.00
- MetaSVM 0.85
- SIFT 0.00
- EVE 0.65
- ClinVar: Pathogenic (Androgen resistance syndrome; Kennedy disease)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Androgen Insensitivity Syndrome. (PMID 20301602)
- Cited in: Spinal and Bulbar Muscular Atrophy. (PMID 20301508)