P139T (p.Pro139Thr) variant of TPMT (Thiopurine S-methyltransferase)
P139T (p.Pro139Thr) in TPMT (Thiopurine S-methyltransferase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
P139T (p.Pro139Thr) variant details
- p.Pro139Thr
- gnomAD 6-18139669-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.264
- REVEL 0.08
- MetaLR 0.08
- MetaSVM -1.04
- CADD 19.60
- PolyPhen-2 0.03
- SIFT 0.42
- Population evidence available
- Structural context available
- Literature evidence available