I44V (p.Ile44Val) variant of TSHR (Thyrotropin receptor)
I44V (p.Ile44Val) in TSHR (Thyrotropin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
I44V (p.Ile44Val) variant details
- p.Ile44Val
- gnomAD rs1438707214
- Missense
- Variant Prioritization Score for Impact Estimate 0.145
- REVEL 0.14
- CADD 11.10
- PolyPhen-2 0.01
- SIFT 0.93
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available