H32R (p.His32Arg) variant of TSHR (Thyrotropin receptor)
H32R (p.His32Arg) in TSHR (Thyrotropin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
H32R (p.His32Arg) variant details
- p.His32Arg
- gnomAD 14-80955775-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.142
- REVEL 0.07
- CADD 15.40
- PolyPhen-2 0.00
- SIFT 0.39
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available