P28S (p.Pro28Ser) variant of TSHR (Thyrotropin receptor)
P28S (p.Pro28Ser) in TSHR (Thyrotropin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
P28S (p.Pro28Ser) variant details
- p.Pro28Ser
- gnomAD rs1253500374
- Missense
- Variant Prioritization Score for Impact Estimate 0.183
- REVEL 0.07
- CADD 14.40
- PolyPhen-2 0.02
- SIFT 0.42
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available