T54A (p.Thr54Ala) variant of TSHR (Thyrotropin receptor)
T54A (p.Thr54Ala) in TSHR (Thyrotropin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
T54A (p.Thr54Ala) variant details
- p.Thr54Ala
- gnomAD rs1198983165
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- REVEL 0.17
- CADD 21.30
- PolyPhen-2 0.31
- SIFT 0.44
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available