R82P (p.Arg82Pro) variant of TPMT (Thiopurine S-methyltransferase)
R82P (p.Arg82Pro) 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 0.55 / 1. The record also includes population frequency data and structural context.
R82P (p.Arg82Pro) variant details
- p.Arg82Pro
- NCI-TCGA Cosmic COSV5942
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.551
- REVEL 0.55
- CADD 21.90
- PolyPhen-2 0.78
- SIFT 0.07
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available