L19P (p.Leu19Pro) variant of TSHR (Thyrotropin receptor)
L19P (p.Leu19Pro) in TSHR (Thyrotropin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
L19P (p.Leu19Pro) variant details
- p.Leu19Pro
- TOPMed rs1296628682
- gnomAD rs1296628682
- Missense
- Variant Prioritization Score for Impact Estimate 0.212
- REVEL 0.20
- CADD 16.20
- PolyPhen-2 0.00
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available