E74D (p.Glu74Asp) variant of LHCGR (P22888)
E74D (p.Glu74Asp) in LHCGR (P22888) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
E74D (p.Glu74Asp) variant details
- p.Glu74Asp
- ExAC rs757817671
- gnomAD rs757817671
- Missense
- Variant Prioritization Score for Impact Estimate 0.216
- REVEL 0.14
- CADD 16.60
- PolyPhen-2 0.01
- SIFT 0.61
- Most common in the HGDP:RUSSIAN population (allele frequency 0.02)
- Structural context available