C131R (p.Cys131Arg) variant of LHCGR (P22888)
C131R (p.Cys131Arg) in LHCGR (P22888) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Leydig cell hypoplasia, type II. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
C131R (p.Cys131Arg) variant details
- p.Cys131Arg
- rs121912527
- ClinGen CA123925
- ClinVar RCV000015475
- UniProt VAR 010154
- Pathogenic
- Leydig cell hypoplasia, type II
- Missense
- Variant Prioritization Score for Impact Estimate 0.753
- REVEL 0.83
- CADD 26.50
- PolyPhen-2 0.97
- SIFT 0.35
- ClinVar: Pathogenic (Leydig cell hypoplasia, type II)
- EBI: Pathogenic (in LHR)
- UniProt: Pathogenic (in LHR)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Comparison of immunocytochemical and molecular features with the phenotype in a case of incomplete male… (PMID 9215288)
- Cited in: Mutant luteinizing hormone receptors in a compound heterozygous patient with complete Leydig cell hypoplasia: abnormal… (PMID 12050206)