A73V (p.Ala73Val) variant of TPMT (Thiopurine S-methyltransferase)
A73V (p.Ala73Val) in TPMT (Thiopurine S-methyltransferase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
A73V (p.Ala73Val) variant details
- p.Ala73Val
- ExAC rs281874771
- TOPMed rs281874771
- gnomAD rs281874771
- Missense
- Variant Prioritization Score for Impact Estimate 0.606
- REVEL 0.54
- CADD 29.30
- PolyPhen-2 0.90
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available