V34M (p.Val34Met) variant of TPMT (Thiopurine S-methyltransferase)
V34M (p.Val34Met) in TPMT (Thiopurine S-methyltransferase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
V34M (p.Val34Met) variant details
- p.Val34Met
- gnomAD rs1246323577
- Missense
- Variant Prioritization Score for Impact Estimate 0.33
- REVEL 0.22
- CADD 22.80
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available