H52D (p.His52Asp) variant of TPMT (Thiopurine S-methyltransferase)
H52D (p.His52Asp) in TPMT (Thiopurine S-methyltransferase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
H52D (p.His52Asp) variant details
- p.His52Asp
- ExAC rs757971326
- gnomAD rs757971326
- Missense
- Variant Prioritization Score for Impact Estimate 0.443
- REVEL 0.54
- CADD 23.00
- PolyPhen-2 0.61
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available