T48M (p.Thr48Met) variant of LHCGR (P22888)
T48M (p.Thr48Met) in LHCGR (P22888) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
T48M (p.Thr48Met) variant details
- p.Thr48Met
- TOPMed rs1304063801
- gnomAD rs1304063801
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- REVEL 0.20
- CADD 10.00
- PolyPhen-2 0.05
- SIFT 0.10
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available