A4A (p.Ala4Ala) variant of TSHR (Thyrotropin receptor)
A4A (p.Ala4Ala) in TSHR (Thyrotropin receptor) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
A4A (p.Ala4Ala) variant details
- p.Ala4Ala
- rs377366847
- gnomAD 14-80955692-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.408
- CADD 6.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available