D696V (p.Asp696Val) variant of AR (Androgen receptor)
D696V (p.Asp696Val) 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 0.85 / 1. The record also includes published literature and structural context.
D696V (p.Asp696Val) variant details
- p.Asp696Val
- rs2147524993
- ClinGen CA413423385
- ClinVar RCV003064728
- ClinVar RCV005930332
- Likely pathogenic
- Androgen resistance syndrome; Kennedy disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.847
- AlphaMissense 0.97
- MetaLR 0.94
- MetaSVM 1.08
- SIFT 0.00
- EVE 0.57
- ClinVar: Likely pathogenic (Androgen resistance syndrome; Kennedy disease)
- EBI: Pathogenic (in AIS)
- UniProt: Pathogenic (in AIS)
- Structural context available
- Cited in: A new missense substitution at a mutational hot spot of the androgen receptor in siblings with complete androgen… (PMID 9554754)
- Cited in: Androgen Insensitivity Syndrome. (PMID 20301602)