C602Y (p.Cys602Tyr) variant of AR (Androgen receptor)
C602Y (p.Cys602Tyr) 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; Kennedy disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes published literature and structural context.
C602Y (p.Cys602Tyr) variant details
- p.Cys602Tyr
- rs1555990470
- ClinGen CA413429210
- NCI-TCGA Cosmic COSV6595
- cosmic curated COSV65953
- Likely pathogenic
- Androgen resistance syndrome; Kennedy disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.892
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.04
- SIFT 0.00
- EVE 0.66
- ClinVar: Likely pathogenic (Androgen resistance syndrome; Kennedy disease)
- EBI: Likely pathogenic (in AIS)
- UniProt: Likely pathogenic (in AIS)
- Structural context available
- Cited in: Androgen Insensitivity Syndrome. (PMID 20301602)
- Cited in: Spinal and Bulbar Muscular Atrophy. (PMID 20301508)