S579T (p.Ser579Thr) variant of AR (Androgen receptor)
S579T (p.Ser579Thr) in AR (Androgen receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Kennedy disease; Androgen resistance syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes published literature and structural context.
S579T (p.Ser579Thr) variant details
- p.Ser579Thr
- rs1555982879
- ClinGen CA413422860
- ClinVar RCV000557358
- Ensembl rs1555982879
- Likely pathogenic
- Kennedy disease; Androgen resistance syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.868
- AlphaMissense 1.00
- MetaLR 0.95
- MetaSVM 1.10
- SIFT 0.00
- EVE 0.63
- ClinVar: Likely pathogenic (Kennedy disease; Androgen resistance syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Androgen Insensitivity Syndrome. (PMID 20301602)
- Cited in: Spinal and Bulbar Muscular Atrophy. (PMID 20301508)