H52R (p.His52Arg) variant of TPMT (Thiopurine S-methyltransferase)
H52R (p.His52Arg) in TPMT (Thiopurine S-methyltransferase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
H52R (p.His52Arg) variant details
- p.His52Arg
- ExAC rs752440908
- gnomAD rs752440908
- Missense
- Variant Prioritization Score for Impact Estimate 0.611
- REVEL 0.60
- CADD 24.60
- PolyPhen-2 0.72
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available