A588P (p.Ala588Pro) variant of AR (Androgen receptor)
A588P (p.Ala588Pro) in AR (Androgen receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Androgen resistance syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes published literature and structural context.
A588P (p.Ala588Pro) variant details
- p.Ala588Pro
- rs1034866440
- ClinGen CA413422919
- ClinVar RCV001560111
- ClinVar RCV001787231
- Pathogenic/Likely pathogenic
- not provided; Androgen resistance syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.709
- AlphaMissense 1.00
- MetaLR 0.94
- MetaSVM 1.09
- SIFT 0.00
- EVE 0.10
- ClinVar: Pathogenic/Likely pathogenic (not provided; Androgen resistance syndrome)
- EBI: Pathogenic (in prostate cancer)
- UniProt: Pathogenic (in prostate cancer)
- Structural context available
- Cited in: Androgen Insensitivity Syndrome. (PMID 20301602)