D733N (p.Asp733Asn) variant of AR (Androgen receptor)
D733N (p.Asp733Asn) in AR (Androgen receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Androgen resistance syndrome; Kennedy disease; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes published literature and structural context.
D733N (p.Asp733Asn) variant details
- p.Asp733Asn
- rs2147530668
- ClinGen CA413424370
- NCI-TCGA Cosmic COSV6595
- cosmic curated COSV65957
- Pathogenic/Likely pathogenic
- Androgen resistance syndrome; Kennedy disease; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.874
- AlphaMissense 1.00
- MetaLR 1.00
- MetaSVM 0.87
- SIFT 0.00
- EVE 0.65
- ClinVar: Pathogenic/Likely pathogenic (Androgen resistance syndrome; Kennedy disease; not provided)
- EBI: Pathogenic (in AIS)
- UniProt: Pathogenic (in AIS)
- Structural context available
- Cited in: Complete androgen insensitivity syndrome. Molecular characterization in two Chinese women. (PMID 9252933)
- Cited in: Androgen Insensitivity Syndrome. (PMID 20301602)