I128L (p.Ile128Leu) variant of TPMT (Thiopurine S-methyltransferase)
I128L (p.Ile128Leu) in TPMT (Thiopurine S-methyltransferase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
I128L (p.Ile128Leu) variant details
- p.Ile128Leu
- gnomAD 6-18139702-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.455
- REVEL 0.45
- MetaLR 0.42
- MetaSVM -0.21
- CADD 26.70
- PolyPhen-2 0.84
- SIFT 0.03
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available
- Literature evidence available