I899T (p.Ile899Thr) variant of AR (Androgen receptor)
I899T (p.Ile899Thr) 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 0.88 / 1. The record also includes published literature and structural context.
I899T (p.Ile899Thr) variant details
- p.Ile899Thr
- rs1555998105
- ClinGen CA413428357
- ClinVar RCV000546100
- UniProt VAR 009852
- Likely pathogenic
- Kennedy disease; Androgen resistance syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.88
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 1.00
- SIFT 0.00
- EVE 0.61
- ClinVar: Likely pathogenic (Kennedy disease; Androgen resistance syndrome)
- EBI: Pathogenic (in AIS)
- UniProt: Pathogenic (in AIS)
- 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)