P893S (p.Pro893Ser) variant of AR (Androgen receptor)
P893S (p.Pro893Ser) 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 0.89 / 1. The record also includes published literature and structural context.
P893S (p.Pro893Ser) variant details
- p.Pro893Ser
- rs2147540489
- ClinGen CA413428309
- cosmic curated COSV65961
- ClinVar RCV003783776
- Pathogenic
- Kennedy disease; Androgen resistance syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.888
- AlphaMissense 0.98
- MetaLR 0.99
- MetaSVM 0.97
- SIFT 0.00
- EVE 0.64
- ClinVar: Pathogenic (Kennedy disease; Androgen resistance syndrome)
- EBI: Pathogenic (in AIS)
- UniProt: Pathogenic (in AIS)
- Structural context available
- Cited in: Androgen Insensitivity Syndrome. (PMID 20301602)
- Cited in: Spinal and Bulbar Muscular Atrophy. (PMID 20301508)