P111S (p.Pro111Ser) variant of TPMT (Thiopurine S-methyltransferase)
P111S (p.Pro111Ser) in TPMT (Thiopurine S-methyltransferase) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
P111S (p.Pro111Ser) variant details
- p.Pro111Ser
- NCI-TCGA TCGA novel
- Ensembl rs1784189914
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.249
- REVEL 0.12
- CADD 20.80
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available