L63M (p.Leu63Met) variant of TPMT (Thiopurine S-methyltransferase)
L63M (p.Leu63Met) in TPMT (Thiopurine S-methyltransferase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
L63M (p.Leu63Met) variant details
- p.Leu63Met
- 1000Genomes rs540172293
- ExAC rs540172293
- gnomAD rs540172293
- Missense
- Variant Prioritization Score for Impact Estimate 0.349
- REVEL 0.34
- CADD 20.90
- PolyPhen-2 0.99
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 5e-05)
- Structural context available