P116A (p.Pro116Ala) variant of TPMT (Thiopurine S-methyltransferase)
P116A (p.Pro116Ala) in TPMT (Thiopurine S-methyltransferase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
P116A (p.Pro116Ala) variant details
- p.Pro116Ala
- TOPMed rs1479488394
- gnomAD rs1479488394
- Missense
- Variant Prioritization Score for Impact Estimate 0.231
- REVEL 0.08
- CADD 17.30
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available