M76I (p.Met76Ile) variant of TPMT (Thiopurine S-methyltransferase)
M76I (p.Met76Ile) in TPMT (Thiopurine S-methyltransferase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
M76I (p.Met76Ile) variant details
- p.Met76Ile
- ExAC rs754599894
- gnomAD rs754599894
- Missense
- Variant Prioritization Score for Impact Estimate 0.669
- REVEL 0.58
- CADD 27.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available