C34Y (p.Cys34Tyr) variant of LHCGR (P22888)
C34Y (p.Cys34Tyr) in LHCGR (P22888) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
C34Y (p.Cys34Tyr) variant details
- p.Cys34Tyr
- TOPMed rs1295870346
- gnomAD rs1295870346
- Missense
- Variant Prioritization Score for Impact Estimate 0.754
- REVEL 0.73
- CADD 27.20
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available