L745F (p.Leu745Phe) variant of AR (Androgen receptor)
L745F (p.Leu745Phe) 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 0.63 / 1. The record also includes published literature and structural context.
L745F (p.Leu745Phe) variant details
- p.Leu745Phe
- rs2147530836
- ClinGen CA413424561
- cosmic curated COSV65953
- ClinVar RCV003783773
- Likely pathogenic
- Kennedy disease; Androgen resistance syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.626
- AlphaMissense 0.29
- MetaLR 0.87
- MetaSVM 0.97
- SIFT 0.03
- EVE 0.12
- ClinVar: Likely pathogenic (Kennedy disease; Androgen resistance syndrome)
- EBI: Likely pathogenic (in AIS and prostate cancer)
- UniProt: Likely pathogenic (in AIS and prostate cancer)
- Structural context available
- Cited in: Androgen receptor mutations. (PMID 7626493)
- Cited in: Androgen Insensitivity Syndrome. (PMID 20301602)