F583L (p.Phe583Leu) variant of AR (Androgen receptor)
F583L (p.Phe583Leu) in AR (Androgen receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Androgen resistance syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes published literature and structural context.
F583L (p.Phe583Leu) variant details
- p.Phe583Leu
- rs2147436658
- ClinGen CA413422890
- ClinVar RCV002472280
- Ensembl rs2147436658
- Likely pathogenic
- Androgen resistance syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.88
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.06
- SIFT 0.00
- EVE 0.62
- ClinVar: Likely pathogenic (Androgen resistance syndrome)
- EBI: Likely pathogenic (in AIS)
- UniProt: Likely pathogenic (in AIS)
- Structural context available
- Cited in: Androgen Insensitivity Syndrome. (PMID 20301602)