L723F (p.Leu723Phe) variant of AR (Androgen receptor)
L723F (p.Leu723Phe) in AR (Androgen receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Kennedy disease; Androgen resistance syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes published literature and structural context.
L723F (p.Leu723Phe) variant details
- p.Leu723Phe
- rs2147525351
- ClinGen CA413423563
- ClinVar RCV003783771
- Ensembl rs2147525351
- Likely pathogenic
- Kennedy disease; Androgen resistance syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.845
- AlphaMissense 0.97
- MetaLR 0.93
- MetaSVM 1.04
- SIFT 0.00
- EVE 0.58
- ClinVar: Likely pathogenic (Kennedy disease; Androgen resistance syndrome)
- EBI: Pathogenic (in AIS)
- UniProt: Pathogenic (in AIS)
- Structural context available
- Cited in: Inherited and de novo androgen receptor gene mutations: investigation of single-case families. (PMID 9627582)
- Cited in: Androgen Insensitivity Syndrome. (PMID 20301602)