C343S (p.Cys343Ser) variant of LHCGR (P22888)
C343S (p.Cys343Ser) 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 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
C343S (p.Cys343Ser) variant details
- p.Cys343Ser
- rs121912536
- ClinGen CA250649
- NCI-TCGA Cosmic COSV5429
- cosmic curated COSV54299
- Pathogenic
- Leydig cell agenesis
- Missense
- Variant Prioritization Score for Impact Estimate 0.812
- REVEL 0.94
- CADD 26.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic (Leydig cell agenesis)
- EBI: Pathogenic (in LHR)
- UniProt: Pathogenic (in LHR)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)