G46S (p.Gly46Ser) variant of LHCGR (P22888)
G46S (p.Gly46Ser) in LHCGR (P22888) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
G46S (p.Gly46Ser) variant details
- p.Gly46Ser
- ExAC rs376613983
- TOPMed rs376613983
- gnomAD rs376613983
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.37
- REVEL 0.18
- CADD 22.20
- PolyPhen-2 0.06
- SIFT 0.59
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 7.4e-05)
- Structural context available