T54P (p.Thr54Pro) variant of TSHR (Thyrotropin receptor)
T54P (p.Thr54Pro) in TSHR (Thyrotropin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
T54P (p.Thr54Pro) variant details
- p.Thr54Pro
- gnomAD rs1198983165
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- REVEL 0.26
- CADD 25.60
- PolyPhen-2 0.93
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available