T48S (p.Thr48Ser) variant of LHCGR (P22888)
T48S (p.Thr48Ser) in LHCGR (P22888) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
T48S (p.Thr48Ser) variant details
- p.Thr48Ser
- ExAC rs760839238
- TOPMed rs760839238
- gnomAD rs760839238
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.205
- REVEL 0.10
- CADD 4.49
- PolyPhen-2 0.01
- SIFT 0.70
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available