V685I (p.Val685Ile) variant of AR (Androgen receptor)
V685I (p.Val685Ile) in AR (Androgen receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Kennedy disease; Androgen resistance syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes published literature and structural context.
V685I (p.Val685Ile) variant details
- p.Val685Ile
- rs1555995822
- ClinGen CA413423307
- ClinVar RCV000640475
- UniProt VAR 009766
- Likely pathogenic
- Kennedy disease; Androgen resistance syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.649
- AlphaMissense 0.08
- MetaLR 0.99
- MetaSVM 0.99
- SIFT 0.03
- EVE 0.19
- ClinVar: Likely pathogenic (Kennedy disease; Androgen resistance syndrome)
- 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: Discordant measures of androgen-binding kinetics in two mutant androgen receptors causing mild or partial androgen… (PMID 10022458)