T48R (p.Thr48Arg) variant of LHCGR (P22888)
T48R (p.Thr48Arg) in LHCGR (P22888) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
T48R (p.Thr48Arg) variant details
- p.Thr48Arg
- TOPMed rs1304063801
- gnomAD rs1304063801
- Missense
- Variant Prioritization Score for Impact Estimate 0.248
- REVEL 0.07
- CADD 7.45
- PolyPhen-2 0.00
- SIFT 0.57
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available