V10E (p.Val10Glu) variant of TSHR (Thyrotropin receptor)
V10E (p.Val10Glu) in TSHR (Thyrotropin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
V10E (p.Val10Glu) variant details
- p.Val10Glu
- ExAC rs766480234
- gnomAD rs766480234
- Missense
- Variant Prioritization Score for Impact Estimate 0.259
- REVEL 0.39
- CADD 4.98
- PolyPhen-2 0.04
- SIFT 0.03
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available