L12L (p.Leu12Leu) variant of TSHR (Thyrotropin receptor)
L12L (p.Leu12Leu) in TSHR (Thyrotropin receptor) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
L12L (p.Leu12Leu) variant details
- p.Leu12Leu
- rs1409710392
- gnomAD 14-80955716-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.484
- CADD 7.46
- Population evidence available
- Structural context available
- Literature evidence available