N706S (p.Asn706Ser) variant of AR (Androgen receptor)
N706S (p.Asn706Ser) 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 0.88 / 1. The record also includes published literature and structural context.
N706S (p.Asn706Ser) variant details
- p.Asn706Ser
- rs925822435
- ClinGen CA413423451
- NCI-TCGA Cosmic COSV1010
- cosmic curated COSV10101
- Pathogenic
- Androgen resistance syndrome; Kennedy disease; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.88
- AlphaMissense 0.98
- MetaLR 0.99
- MetaSVM 0.99
- SIFT 0.00
- EVE 0.61
- ClinVar: Pathogenic (Androgen resistance syndrome; Kennedy disease; not provided)
- EBI: Pathogenic (in AIS)
- UniProt: Pathogenic (in AIS)
- Structural context available
- Cited in: Single base mutations in the human androgen receptor gene causing complete androgen insensitivity: rapid detection by a… (PMID 1480178)
- Cited in: Androgen receptor defects: historical, clinical, and molecular perspectives. (PMID 7671849)