G46C (p.Gly46Cys) variant of LHCGR (P22888)
G46C (p.Gly46Cys) in LHCGR (P22888) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
G46C (p.Gly46Cys) variant details
- p.Gly46Cys
- ExAC rs376613983
- TOPMed rs376613983
- gnomAD rs376613983
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.402
- REVEL 0.24
- CADD 24.10
- PolyPhen-2 0.01
- SIFT 0.06
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available