L50L (p.Leu50Leu) variant of TSHR (Thyrotropin receptor)
L50L (p.Leu50Leu) in TSHR (Thyrotropin receptor) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
L50L (p.Leu50Leu) variant details
- p.Leu50Leu
- gnomAD 14-80955828-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.254
- CADD 9.74
- Population evidence available
- Structural context available
- Literature evidence available