H46R (p.His46Arg) variant of TPMT (Thiopurine S-methyltransferase)
H46R (p.His46Arg) in TPMT (Thiopurine S-methyltransferase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
H46R (p.His46Arg) variant details
- p.His46Arg
- ExAC rs762702707
- gnomAD rs762702707
- Missense
- Variant Prioritization Score for Impact Estimate 0.54
- REVEL 0.45
- CADD 27.60
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available