G50S (p.Gly50Ser) variant of LHCGR (P22888)
G50S (p.Gly50Ser) in LHCGR (P22888) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
G50S (p.Gly50Ser) variant details
- p.Gly50Ser
- TOPMed rs372057341
- gnomAD rs372057341
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- REVEL 0.16
- CADD 20.20
- PolyPhen-2 0.12
- SIFT 0.51
- Most common in the African/African-American population (allele frequency 6.4e-05)
- Structural context available