S616Y (p.Ser616Tyr) variant of LHCGR (P22888)
S616Y (p.Ser616Tyr) in LHCGR (P22888) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Leydig cell agenesis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
S616Y (p.Ser616Tyr) variant details
- p.Ser616Tyr
- rs121912525
- ClinGen CA123923
- NCI-TCGA Cosmic COSV5429
- ClinVar RCV000015472
- Pathogenic/Likely pathogenic
- not provided; Leydig cell agenesis
- Missense
- Variant Prioritization Score for Impact Estimate 0.833
- REVEL 0.86
- CADD 27.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Leydig cell agenesis)
- EBI: Pathogenic (in LHR)
- UniProt: Pathogenic (in LHR)
- Most common in the 1KG:PUR population (allele frequency 0.0051)
- Structural context available
- Cited in: Brief report: testicular and ovarian resistance to luteinizing hormone caused by inactivating mutations of the… (PMID 8559204)
- Cited in: Mutant luteinizing hormone receptors in a compound heterozygous patient with complete Leydig cell hypoplasia: abnormal… (PMID 12050206)