P3Q (p.Pro3Gln) variant of TSHR (Thyrotropin receptor)
P3Q (p.Pro3Gln) in TSHR (Thyrotropin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
P3Q (p.Pro3Gln) variant details
- p.Pro3Gln
- gnomAD rs1263008401
- Missense
- Variant Prioritization Score for Impact Estimate 0.204
- REVEL 0.15
- CADD 16.40
- PolyPhen-2 0.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available