Y764C (p.Tyr764Cys) variant of AR (Androgen receptor)
Y764C (p.Tyr764Cys) in AR (Androgen receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Partial androgen insensitivity syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes published literature and structural context.
Y764C (p.Tyr764Cys) variant details
- p.Tyr764Cys
- rs137852567
- ClinGen CA120695
- cosmic curated COSV65955
- ClinVar RCV000010484
- Pathogenic
- Partial androgen insensitivity syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.836
- AlphaMissense 0.99
- MetaLR 0.93
- MetaSVM 1.06
- SIFT 0.00
- EVE 0.55
- ClinVar: Pathogenic (Partial androgen insensitivity syndrome)
- EBI: Pathogenic (in PAIS and prostate cancer)
- UniProt: Pathogenic (in PAIS and prostate cancer)
- Structural context available
- Cited in: Molecular basis of androgen resistance in a family with a qualitative abnormality of the androgen receptor and… (PMID 2010552)
- Cited in: Androgen resistance associated with a qualitative abnormality of the androgen receptor and responsive to high dose… (PMID 2918059)