I625K (p.Ile625Lys) variant of LHCGR (P22888)
I625K (p.Ile625Lys) 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 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
I625K (p.Ile625Lys) variant details
- p.Ile625Lys
- rs121912530
- ClinGen CA123928
- ClinVar RCV000015481
- UniProt VAR 003563
- Pathogenic
- Leydig cell hypoplasia, type II
- Missense
- Variant Prioritization Score for Impact Estimate 0.812
- REVEL 0.94
- CADD 25.90
- 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 1.5e-05)
- Structural context available
- Cited in: A homozygous mutation in the luteinizing hormone receptor causes partial Leydig cell hypoplasia: correlation between… (PMID 9626653)
- Cited in: Mutant luteinizing hormone receptors in a compound heterozygous patient with complete Leydig cell hypoplasia: abnormal… (PMID 12050206)