H84D (p.His84Asp) variant of TPMT (Thiopurine S-methyltransferase)
H84D (p.His84Asp) in TPMT (Thiopurine S-methyltransferase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
H84D (p.His84Asp) variant details
- p.His84Asp
- gnomAD rs1235431245
- Missense
- Variant Prioritization Score for Impact Estimate 0.591
- REVEL 0.57
- CADD 26.50
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available