A766T (p.Ala766Thr) variant of AR (Androgen receptor)
A766T (p.Ala766Thr) in AR (Androgen receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Androgen resistance syndrome; not provided; Kennedy disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
A766T (p.Ala766Thr) variant details
- p.Ala766Thr
- rs1555996863
- ClinGen CA413424759
- NCI-TCGA Cosmic COSV6595
- cosmic curated COSV65953
- Pathogenic
- Androgen resistance syndrome; not provided; Kennedy disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.87
- AlphaMissense 1.00
- MetaLR 0.95
- MetaSVM 1.10
- SIFT 0.00
- EVE 0.63
- ClinVar: Pathogenic (Androgen resistance syndrome; not provided; Kennedy disease)
- EBI: Pathogenic (in AIS)
- UniProt: Pathogenic (in AIS)
- Population evidence available
- Structural context available
- Cited in: A unique point mutation in the androgen receptor gene in a family with complete androgen insensitivity syndrome. (PMID 1426313)
- Cited in: Complete androgen insensitivity syndrome. Molecular characterization in two Chinese women. (PMID 9252933)