A4E (p.Ala4Glu) variant of TSHR (Thyrotropin receptor)
A4E (p.Ala4Glu) in TSHR (Thyrotropin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
A4E (p.Ala4Glu) variant details
- p.Ala4Glu
- TOPMed rs1347451255
- gnomAD rs1347451255
- Missense
- Variant Prioritization Score for Impact Estimate 0.0941
- REVEL 0.10
- CADD 0.22
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available