L138V (p.Leu138Val) variant of TPMT (Thiopurine S-methyltransferase)
L138V (p.Leu138Val) in TPMT (Thiopurine S-methyltransferase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
L138V (p.Leu138Val) variant details
- p.Leu138Val
- gnomAD 6-18139672-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.402
- REVEL 0.34
- MetaLR 0.30
- MetaSVM -0.51
- CADD 22.50
- PolyPhen-2 0.30
- SIFT 0.12
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available
- Literature evidence available