L701F (p.Leu701Phe) variant of AR (Androgen receptor)
L701F (p.Leu701Phe) 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 0.85 / 1. The record also includes published literature and structural context.
L701F (p.Leu701Phe) variant details
- p.Leu701Phe
- rs1555995848
- ClinGen CA413423421
- ClinVar RCV001376911
- ClinVar RCV005901277
- Pathogenic
- Androgen resistance syndrome; Kennedy disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.845
- AlphaMissense 0.97
- MetaLR 0.92
- MetaSVM 1.01
- SIFT 0.00
- EVE 0.60
- ClinVar: Pathogenic (Androgen resistance syndrome; Kennedy disease)
- 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)