C687R (p.Cys687Arg) variant of AR (Androgen receptor)
C687R (p.Cys687Arg) in AR (Androgen receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Male infertility. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes published literature and structural context.
C687R (p.Cys687Arg) variant details
- p.Cys687Arg
- rs2147524850
- ClinGen CA413423320
- ClinVar RCV003983767
- UniProt VAR 009767
- Pathogenic
- Male infertility
- Missense
- Variant Prioritization Score for Impact Estimate 0.671
- AlphaMissense 0.42
- MetaLR 0.97
- MetaSVM 1.20
- SIFT 0.27
- EVE 0.10
- ClinVar: Pathogenic (Male infertility)
- EBI: Pathogenic (in PAIS)
- UniProt: Pathogenic (in PAIS)
- Structural context available
- Cited in: The clinical and molecular spectrum of androgen insensitivity syndromes. (PMID 8723113)
- Cited in: Discordant measures of androgen-binding kinetics in two mutant androgen receptors causing mild or partial androgen… (PMID 10022458)