L138H (p.Leu138His) variant of TPMT (Thiopurine S-methyltransferase)
L138H (p.Leu138His) in TPMT (Thiopurine S-methyltransferase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
L138H (p.Leu138His) variant details
- p.Leu138His
- gnomAD 6-18139671-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.74
- REVEL 0.81
- MetaLR 0.67
- MetaSVM 0.57
- CADD 28.20
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Middle Eastern population (allele frequency 0.0011)
- Structural context available
- Literature evidence available