P28L (p.Pro28Leu) variant of TSHR (Thyrotropin receptor)
P28L (p.Pro28Leu) in TSHR (Thyrotropin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
P28L (p.Pro28Leu) variant details
- p.Pro28Leu
- Ensembl rs1886634720
- Missense
- Variant Prioritization Score for Impact Estimate 0.259
- REVEL 0.17
- CADD 18.70
- PolyPhen-2 0.05
- SIFT 0.69
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available