L19Q (p.Leu19Gln) variant of TSHR (Thyrotropin receptor)
L19Q (p.Leu19Gln) in TSHR (Thyrotropin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
L19Q (p.Leu19Gln) variant details
- p.Leu19Gln
- gnomAD 14-80955736-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.367
- REVEL 0.46
- CADD 15.80
- PolyPhen-2 0.35
- SIFT 0.25
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available