L617P (p.Leu617Pro) variant of AR (Androgen receptor)
L617P (p.Leu617Pro) 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; Kennedy disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes published literature and structural context.
L617P (p.Leu617Pro) variant details
- p.Leu617Pro
- rs1555990488
- ClinGen CA413429312
- ClinVar RCV001377727
- UniProt VAR 009753
- Pathogenic
- Androgen resistance syndrome; Kennedy disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.857
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.08
- SIFT 0.00
- EVE 0.56
- ClinVar: Pathogenic (Androgen resistance syndrome; Kennedy disease)
- EBI: Pathogenic (in AIS)
- UniProt: Pathogenic (in AIS)
- Structural context available
- Cited in: Molecular modeling and in vitro investigations of the human androgen receptor DNA-binding domain: application for the… (PMID 8647313)
- Cited in: Discordant measures of androgen-binding kinetics in two mutant androgen receptors causing mild or partial androgen… (PMID 10022458)