D696N (p.Asp696Asn) variant of AR (Androgen receptor)
D696N (p.Asp696Asn) in AR (Androgen receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Androgen resistance syndrome; Kennedy disease; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes published literature and structural context.
D696N (p.Asp696Asn) variant details
- p.Asp696Asn
- rs1555995840
- ClinGen CA413423381
- NCI-TCGA Cosmic COSV6595
- cosmic curated COSV65957
- Pathogenic
- Androgen resistance syndrome; Kennedy disease; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.862
- AlphaMissense 0.93
- MetaLR 0.94
- MetaSVM 1.08
- SIFT 0.00
- EVE 0.63
- ClinVar: Pathogenic (Androgen resistance syndrome; Kennedy disease; not provided)
- EBI: Pathogenic (in AIS)
- UniProt: Pathogenic (in AIS)
- Structural context available
- Cited in: Human androgen receptor gene ligand-binding-domain mutations leading to disrupted interaction between the N- and… (PMID 16595706)
- Cited in: Substitution of aspartic acid-686 by histidine or asparagine in the human androgen receptor leads to a functionally… (PMID 1775137)