S579R (p.Ser579Arg) variant of AR (Androgen receptor)
S579R (p.Ser579Arg) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes published literature and structural context.
S579R (p.Ser579Arg) variant details
- p.Ser579Arg
- rs746207524
- 1000Genomes rs746207524
- ExAC rs746207524
- gnomAD rs746207524
- Likely pathogenic
- Androgen resistance syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.864
- AlphaMissense 1.00
- MetaLR 0.94
- MetaSVM 1.09
- SIFT 0.00
- EVE 0.63
- ClinVar: Likely pathogenic (Androgen resistance syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Androgen Insensitivity Syndrome. (PMID 20301602)