G50R (p.Gly50Arg) variant of LHCGR (P22888)
G50R (p.Gly50Arg) in LHCGR (P22888) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
G50R (p.Gly50Arg) variant details
- p.Gly50Arg
- TOPMed rs372057341
- gnomAD rs372057341
- Missense
- Variant Prioritization Score for Impact Estimate 0.381
- REVEL 0.23
- CADD 23.50
- PolyPhen-2 0.93
- SIFT 0.24
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available