E98D (p.Glu98Asp) variant of TPMT (Thiopurine S-methyltransferase)
E98D (p.Glu98Asp) in TPMT (Thiopurine S-methyltransferase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
E98D (p.Glu98Asp) variant details
- p.Glu98Asp
- rs755583154
- ClinGen CA3650240
- ClinVar RCV004470898
- ExAC rs755583154
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.212
- REVEL 0.10
- CADD 18.10
- PolyPhen-2 0.02
- SIFT 0.19
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available