S125P (p.Ser125Pro) variant of TPMT (Thiopurine S-methyltransferase)
S125P (p.Ser125Pro) in TPMT (Thiopurine S-methyltransferase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
S125P (p.Ser125Pro) variant details
- p.Ser125Pro
- gnomAD 6-18139711-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.293
- REVEL 0.28
- MetaLR 0.14
- MetaSVM -0.84
- CADD 22.90
- PolyPhen-2 0.01
- SIFT 0.49
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available
- Literature evidence available