A80P (p.Ala80Pro) variant of TPMT (Thiopurine S-methyltransferase)
A80P (p.Ala80Pro) in TPMT (Thiopurine S-methyltransferase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as drug response in the context of Thiopurine S-methyltransferase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
A80P (p.Ala80Pro) variant details
- p.Ala80Pro
- rs1800462
- ClinGen CA122644
- ClinVar RCV000013558
- UniProt VAR 005637
- drug response
- Thiopurine S-methyltransferase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.723
- REVEL 0.85
- CADD 24.60
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: drug response (Thiopurine S-methyltransferase deficiency)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- Structural context available
- Cited in: The frequency and distribution of thiopurine methyltransferase alleles in Caucasian and Asian populations. (PMID 10208641)
- Cited in: Genetic analysis of thiopurine methyltransferase polymorphism in a Japanese population. (PMID 10751626)