S25W (p.Ser25Trp) variant of TSHR (Thyrotropin receptor)
S25W (p.Ser25Trp) in TSHR (Thyrotropin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
S25W (p.Ser25Trp) variant details
- p.Ser25Trp
- TOPMed rs1279964862
- gnomAD rs1279964862
- Missense
- Variant Prioritization Score for Impact Estimate 0.213
- REVEL 0.24
- CADD 13.50
- PolyPhen-2 0.55
- SIFT 0.19
- Most common in the South Asian population (allele frequency 4.6e-05)
- Structural context available