G46R (p.Gly46Arg) variant of LHCGR (P22888)
G46R (p.Gly46Arg) 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 0.42 / 1. The record also includes population frequency data and structural context.
G46R (p.Gly46Arg) variant details
- p.Gly46Arg
- ExAC rs376613983
- TOPMed rs376613983
- gnomAD rs376613983
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.423
- REVEL 0.26
- CADD 22.70
- PolyPhen-2 0.44
- SIFT 0.66
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available