E43D (p.Glu43Asp) variant of TPMT (Thiopurine S-methyltransferase)
E43D (p.Glu43Asp) 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 0.13 / 1. The record also includes population frequency data and structural context.
E43D (p.Glu43Asp) variant details
- p.Glu43Asp
- rs200148021
- ClinGen CA3650309
- ClinVar RCV004251840
- ExAC rs200148021
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.13
- REVEL 0.10
- CADD 14.70
- PolyPhen-2 0.25
- SIFT 0.27
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available