G709V (p.Gly709Val) variant of AR (Androgen receptor)
G709V (p.Gly709Val) 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 0.86 / 1. The record also includes published literature and structural context.
G709V (p.Gly709Val) variant details
- p.Gly709Val
- rs2147525149
- ClinGen CA413423471
- ClinVar RCV002035910
- ClinVar RCV005925595
- Likely pathogenic
- Androgen resistance syndrome; Kennedy disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.863
- AlphaMissense 1.00
- MetaLR 0.94
- MetaSVM 1.08
- SIFT 0.00
- EVE 0.63
- ClinVar: Likely pathogenic (Androgen resistance syndrome; Kennedy disease)
- EBI: Pathogenic (in AIS)
- UniProt: Pathogenic (in AIS)
- Structural context available
- Cited in: Update of the androgen receptor gene mutations database. (PMID 10425033)
- Cited in: Androgen Insensitivity Syndrome. (PMID 20301602)