D137G (p.Asp137Gly) variant of TPMT (Thiopurine S-methyltransferase)
D137G (p.Asp137Gly) in TPMT (Thiopurine S-methyltransferase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
D137G (p.Asp137Gly) variant details
- p.Asp137Gly
- gnomAD 6-18139674-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.506
- REVEL 0.45
- MetaLR 0.31
- MetaSVM -0.53
- CADD 29.10
- PolyPhen-2 0.77
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available
- Literature evidence available