G40C (p.Gly40Cys) variant of LHCGR (P22888)
G40C (p.Gly40Cys) in LHCGR (P22888) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Leydig cell agenesis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
G40C (p.Gly40Cys) variant details
- p.Gly40Cys
- rs1670170321
- ClinGen CA346815472
- ClinVar RCV003234828
- Uncertain significance
- Leydig cell agenesis
- Missense
- Variant Prioritization Score for Impact Estimate 0.529
- REVEL 0.47
- CADD 27.90
- PolyPhen-2 0.93
- SIFT 0.03
- ClinVar: Uncertain significance (Leydig cell agenesis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.3e-05)
- Structural context available