C543R (p.Cys543Arg) variant of LHCGR (P22888)
C543R (p.Cys543Arg) in LHCGR (P22888) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Leydig cell agenesis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes published literature and structural context.
C543R (p.Cys543Arg) variant details
- p.Cys543Arg
- rs121912537
- ClinGen CA250646
- ClinVar RCV000015464
- UniProt VAR 010158
- Pathogenic
- Leydig cell agenesis
- Missense
- Variant Prioritization Score for Impact Estimate 0.78
- AlphaMissense 0.94
- MetaLR 0.65
- MetaSVM 0.56
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.93
- ClinVar: Pathogenic (Leydig cell agenesis)
- EBI: Pathogenic (in LHR)
- UniProt: Pathogenic (in LHR)
- Structural context available
- Cited in: Mutant luteinizing hormone receptors in a compound heterozygous patient with complete Leydig cell hypoplasia: abnormal… (PMID 12050206)
- Cited in: A novel missense homozygous inactivating mutation in the fourth transmembrane helix of the luteinizing hormone receptor… (PMID 15372531)