P16H (p.Pro16His) variant of TSHR (Thyrotropin receptor)
P16H (p.Pro16His) in TSHR (Thyrotropin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
P16H (p.Pro16His) variant details
- p.Pro16His
- gnomAD 14-80955727-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.282
- REVEL 0.26
- CADD 15.80
- PolyPhen-2 0.19
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available