A597T (p.Ala597Thr) variant of AR (Androgen receptor)
A597T (p.Ala597Thr) 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; Disorder of sexual differentiatio. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
A597T (p.Ala597Thr) variant details
- p.Ala597Thr
- rs137852569
- ClinGen CA120703
- NCI-TCGA Cosmic COSV6595
- cosmic curated COSV65954
- Pathogenic
- Kennedy disease; Androgen resistance syndrome; Disorder of sexual differentiatio
- Missense
- Variant Prioritization Score for Impact Estimate 0.844
- AlphaMissense 1.00
- MetaLR 0.91
- MetaSVM 0.98
- SIFT 0.00
- EVE 0.62
- ClinVar: Pathogenic (Kennedy disease; Androgen resistance syndrome; Disorder of sexua)
- EBI: Pathogenic (in AIS)
- UniProt: Pathogenic (in AIS)
- Population evidence available
- Structural context available
- Cited in: Clinical and molecular spectrum of somatic mosaicism in androgen insensitivity syndrome. (PMID 10590024)
- Cited in: Point mutation in the DNA binding domain of the androgen receptor in two families with Reifenstein syndrome. (PMID 1598912)