L130S (p.Leu130Ser) variant of TPMT (Thiopurine S-methyltransferase)
L130S (p.Leu130Ser) in TPMT (Thiopurine S-methyltransferase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
L130S (p.Leu130Ser) variant details
- p.Leu130Ser
- gnomAD 6-18139695-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.707
- REVEL 0.80
- MetaLR 0.54
- MetaSVM 0.27
- CADD 27.20
- PolyPhen-2 0.66
- SIFT 0.14
- Population evidence available
- Structural context available
- Literature evidence available