M76K (p.Met76Lys) variant of TPMT (Thiopurine S-methyltransferase)
M76K (p.Met76Lys) in TPMT (Thiopurine S-methyltransferase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
M76K (p.Met76Lys) variant details
- p.Met76Lys
- TOPMed rs1200214781
- gnomAD rs1200214781
- Missense
- Variant Prioritization Score for Impact Estimate 0.757
- REVEL 0.84
- CADD 27.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available