T48A (p.Thr48Ala) variant of LHCGR (P22888)
T48A (p.Thr48Ala) in LHCGR (P22888) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. 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.
T48A (p.Thr48Ala) variant details
- p.Thr48Ala
- ExAC rs760839238
- TOPMed rs760839238
- gnomAD rs760839238
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.253
- REVEL 0.17
- CADD 6.24
- PolyPhen-2 0.00
- SIFT 0.67
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available