H41R (p.His41Arg) variant of TPMT (Thiopurine S-methyltransferase)
H41R (p.His41Arg) in TPMT (Thiopurine S-methyltransferase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
H41R (p.His41Arg) variant details
- p.His41Arg
- ExAC rs757081801
- TOPMed rs757081801
- gnomAD rs757081801
- Missense
- Variant Prioritization Score for Impact Estimate 0.701
- REVEL 0.75
- CADD 24.90
- PolyPhen-2 0.88
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available