V144F (p.Val144Phe) variant of LHCGR (P22888)
V144F (p.Val144Phe) 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 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
V144F (p.Val144Phe) variant details
- p.Val144Phe
- rs121912539
- ClinGen CA250651
- ClinVar RCV000015492
- UniProt VAR 062336
- Pathogenic
- Leydig cell agenesis
- Missense
- Variant Prioritization Score for Impact Estimate 0.561
- REVEL 0.67
- CADD 23.50
- PolyPhen-2 0.41
- SIFT 0.00
- ClinVar: Pathogenic (Leydig cell agenesis)
- EBI: Pathogenic (in LHR)
- UniProt: Pathogenic (in LHR)
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- Cited in: Leydig cell hypoplasia: absent luteinizing hormone receptor cell surface expression caused by a novel homozygous… (PMID 15472221)
- Cited in: Mutant luteinizing hormone receptors in a compound heterozygous patient with complete Leydig cell hypoplasia: abnormal… (PMID 12050206)