T16S (p.Thr16Ser) variant of TPMT (Thiopurine S-methyltransferase)
T16S (p.Thr16Ser) in TPMT (Thiopurine S-methyltransferase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
T16S (p.Thr16Ser) variant details
- p.Thr16Ser
- ExAC rs747615886
- TOPMed rs747615886
- gnomAD rs747615886
- Missense
- Variant Prioritization Score for Impact Estimate 0.111
- REVEL 0.14
- CADD 2.26
- PolyPhen-2 0.00
- SIFT 0.48
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available