R140G (p.Arg140Gly) variant of TPMT (Thiopurine S-methyltransferase)
R140G (p.Arg140Gly) in TPMT (Thiopurine S-methyltransferase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
R140G (p.Arg140Gly) variant details
- p.Arg140Gly
- gnomAD 6-18139666-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- REVEL 0.27
- MetaLR 0.22
- MetaSVM -0.75
- CADD 32.00
- PolyPhen-2 0.82
- SIFT 0.10
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Structural context available
- Literature evidence available