P139S (p.Pro139Ser) variant of TPMT (Thiopurine S-methyltransferase)
P139S (p.Pro139Ser) 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 0.27 / 1. The record also includes population frequency data and structural context.
P139S (p.Pro139Ser) variant details
- p.Pro139Ser
- NCI-TCGA Cosmic COSV5942
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- REVEL 0.08
- CADD 17.90
- PolyPhen-2 0.01
- SIFT 1.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- Structural context available