L6L (p.Leu6Leu) variant of TSHR (Thyrotropin receptor)
L6L (p.Leu6Leu) in TSHR (Thyrotropin receptor) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
L6L (p.Leu6Leu) variant details
- p.Leu6Leu
- rs2139669162
- gnomAD 14-80955698-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.419
- CADD 8.42
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available