I10S (p.Ile10Ser) variant of TPMT (Thiopurine S-methyltransferase)
I10S (p.Ile10Ser) in TPMT (Thiopurine S-methyltransferase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
I10S (p.Ile10Ser) variant details
- p.Ile10Ser
- gnomAD rs1282754346
- Missense
- Variant Prioritization Score for Impact Estimate 0.149
- REVEL 0.19
- CADD 6.15
- PolyPhen-2 0.00
- SIFT 0.06
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available