P914S (p.Pro914Ser) variant of AR (Androgen receptor)
P914S (p.Pro914Ser) 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 record also includes published literature and structural context.
P914S (p.Pro914Ser) variant details
- p.Pro914Ser
- Ensembl rs1064795250
- UniProt VAR 004736
- Likely pathogenic
- Androgen resistance syndrome; Kennedy disease
- Missense
- ClinVar: Likely pathogenic (Androgen resistance syndrome; Kennedy disease)
- EBI: Pathogenic (in PAIS)
- UniProt: Pathogenic (in PAIS)
- Structural context available
- Cited in: Discordant measures of androgen-binding kinetics in two mutant androgen receptors causing mild or partial androgen… (PMID 10022458)
- Cited in: Androgen receptor gene mutations in 46,XY females with germ cell tumours. (PMID 10221692)