D691G (p.Asp691Gly) variant of AR (Androgen receptor)
D691G (p.Asp691Gly) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes published literature and structural context.
D691G (p.Asp691Gly) variant details
- p.Asp691Gly
- rs2076094126
- ClinGen CA413423349
- ClinVar RCV003320007
- TOPMed rs2076094126
- Likely pathogenic
- Androgen resistance syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.722
- AlphaMissense 0.96
- MetaLR 0.99
- MetaSVM 1.00
- SIFT 0.00
- EVE 0.07
- ClinVar: Likely pathogenic (Androgen resistance syndrome)
- EBI: Likely pathogenic (in PAIS)
- UniProt: Likely pathogenic (in PAIS)
- Structural context available
- Cited in: Androgen Insensitivity Syndrome. (PMID 20301602)