A118E (p.Ala118Glu) variant of LHCGR (P22888)
A118E (p.Ala118Glu) 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 0.85 / 1. The record also includes population frequency data and structural context.
A118E (p.Ala118Glu) variant details
- p.Ala118Glu
- 1000Genomes rs200591881
- ExAC rs200591881
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.854
- REVEL 0.88
- AlphaMissense 0.96
- MetaLR 0.92
- MetaSVM 1.05
- CADD 25.40
- PolyPhen-2 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available