L57L (p.Leu57Leu) variant of TSHR (Thyrotropin receptor)
L57L (p.Leu57Leu) in TSHR (Thyrotropin receptor) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
L57L (p.Leu57Leu) variant details
- p.Leu57Leu
- rs1566735516
- gnomAD 14-80955849-C-T
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.345
- CADD 9.28
- Population evidence available
- Structural context available
- Literature evidence available