A4S (p.Ala4Ser) variant of TSHR (Thyrotropin receptor)
A4S (p.Ala4Ser) in TSHR (Thyrotropin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
A4S (p.Ala4Ser) variant details
- p.Ala4Ser
- gnomAD rs1460409181
- Missense
- Variant Prioritization Score for Impact Estimate 0.105
- REVEL 0.12
- CADD 0.71
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available