S134G (p.Ser134Gly) variant of TPMT (Thiopurine S-methyltransferase)
S134G (p.Ser134Gly) in TPMT (Thiopurine S-methyltransferase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
S134G (p.Ser134Gly) variant details
- p.Ser134Gly
- Ensembl rs1347019530
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- REVEL 0.26
- CADD 22.80
- PolyPhen-2 0.36
- SIFT 0.13
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available