I900F (p.Ile900Phe) variant of AR (Androgen receptor)
I900F (p.Ile900Phe) in AR (Androgen receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Kennedy disease; Androgen resistance syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes published literature and structural context.
I900F (p.Ile900Phe) variant details
- p.Ile900Phe
- rs1555998108
- ClinGen CA413428361
- ClinVar RCV000554118
- Ensembl rs1555998108
- Pathogenic
- Kennedy disease; Androgen resistance syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.871
- AlphaMissense 0.97
- MetaLR 0.99
- MetaSVM 1.02
- SIFT 0.00
- EVE 0.59
- ClinVar: Pathogenic (Kennedy disease; Androgen resistance syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Androgen Insensitivity Syndrome. (PMID 20301602)
- Cited in: Spinal and Bulbar Muscular Atrophy. (PMID 20301508)