E34V (p.Glu34Val) variant of TSHR (Thyrotropin receptor)
E34V (p.Glu34Val) in TSHR (Thyrotropin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
E34V (p.Glu34Val) variant details
- p.Glu34Val
- gnomAD rs1418754419
- Missense
- Variant Prioritization Score for Impact Estimate 0.402
- REVEL 0.26
- CADD 23.30
- PolyPhen-2 0.12
- SIFT 0.28
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available