Q18H (p.Gln18His) variant of LHCGR (P22888)
Q18H (p.Gln18His) in LHCGR (P22888) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
Q18H (p.Gln18His) variant details
- p.Gln18His
- ExAC rs780848944
- TOPMed rs780848944
- gnomAD rs780848944
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.117
- REVEL 0.16
- CADD 1.21
- PolyPhen-2 0.01
- SIFT 0.13
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available