D15A (p.Asp15Ala) variant of TPMT (Thiopurine S-methyltransferase)
D15A (p.Asp15Ala) 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.
D15A (p.Asp15Ala) variant details
- p.Asp15Ala
- TOPMed rs948295693
- gnomAD rs948295693
- Missense
- Variant Prioritization Score for Impact Estimate 0.233
- REVEL 0.18
- CADD 16.60
- PolyPhen-2 0.02
- SIFT 0.02
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available