T54M (p.Thr54Met) variant of TSHR (Thyrotropin receptor)
T54M (p.Thr54Met) in TSHR (Thyrotropin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
T54M (p.Thr54Met) variant details
- p.Thr54Met
- cosmic curated COSV53329
- TOPMed rs1241423317
- gnomAD rs1241423317
- Missense
- Variant Prioritization Score for Impact Estimate 0.446
- REVEL 0.20
- CADD 25.00
- PolyPhen-2 0.99
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available