L57E (p.Leu57Glu) variant of TSHR (Thyrotropin receptor)
L57E (p.Leu57Glu) in TSHR (Thyrotropin receptor) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
L57E (p.Leu57Glu) variant details
- p.Leu57Glu
- rs766597914
- gnomAD 14-80955846-ACT-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.621
- CADD 24.40
- Population evidence available
- Structural context available
- Literature evidence available