R832G (p.Arg832Gly) variant of AR (Androgen receptor)
R832G (p.Arg832Gly) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
R832G (p.Arg832Gly) variant details
- p.Arg832Gly
- rs2147537840
- ClinGen CA413427705
- ClinVar RCV002273090
- Ensembl rs2147537840
- Pathogenic
- Androgen resistance syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.895
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 0.99
- SIFT 0.00
- EVE 0.66
- ClinVar: Pathogenic (Androgen resistance syndrome)
- EBI: Pathogenic (in AIS)
- UniProt: Pathogenic (in AIS)
- Structural context available
- Cited in: Androgen Insensitivity Syndrome. (PMID 20301602)