L702F (p.Leu702Phe) variant of AR (Androgen receptor)
L702F (p.Leu702Phe) in AR (Androgen receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Differences in sex development; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes published literature and structural context.
L702F (p.Leu702Phe) variant details
- p.Leu702Phe
- rs1555995851
- ClinGen CA413423422
- ClinVar RCV000582497
- ClinVar RCV005865355
- Likely pathogenic
- Differences in sex development; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.841
- AlphaMissense 0.87
- MetaLR 0.92
- MetaSVM 1.00
- SIFT 0.00
- EVE 0.60
- ClinVar: Likely pathogenic (Differences in sex development; not provided)
- EBI: Pathogenic (in AIS)
- UniProt: Pathogenic (in AIS)
- Structural context available
- Cited in: Discordant measures of androgen-binding kinetics in two mutant androgen receptors causing mild or partial androgen… (PMID 10022458)
- Cited in: Androgen receptor gene mutations in 46,XY females with germ cell tumours. (PMID 10221692)