E354K (p.Glu354Lys) variant of LHCGR (P22888)
E354K (p.Glu354Lys) 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 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
E354K (p.Glu354Lys) variant details
- p.Glu354Lys
- rs121912529
- ClinGen CA123927
- NCI-TCGA Cosmic COSV5429
- cosmic curated COSV54297
- Pathogenic
- Leydig cell agenesis
- Missense
- Variant Prioritization Score for Impact Estimate 0.854
- REVEL 0.90
- CADD 26.60
- PolyPhen-2 0.94
- 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: A novel mutation of the human luteinizing hormone receptor in 46XY and 46XX sisters. (PMID 9626144)
- Cited in: Mutant luteinizing hormone receptors in a compound heterozygous patient with complete Leydig cell hypoplasia: abnormal… (PMID 12050206)