G117E (p.Gly117Glu) variant of LHCGR (P22888)
G117E (p.Gly117Glu) in LHCGR (P22888) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
G117E (p.Gly117Glu) variant details
- p.Gly117Glu
- ExAC rs758016158
- gnomAD rs758016158
- Missense
- Variant Prioritization Score for Impact Estimate 0.552
- REVEL 0.62
- CADD 22.80
- PolyPhen-2 0.94
- SIFT 1.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available