W78R (p.Trp78Arg) variant of TPMT (Thiopurine S-methyltransferase)
W78R (p.Trp78Arg) in TPMT (Thiopurine S-methyltransferase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
W78R (p.Trp78Arg) variant details
- p.Trp78Arg
- ExAC rs753277177
- gnomAD rs753277177
- Missense
- Variant Prioritization Score for Impact Estimate 0.803
- REVEL 0.88
- CADD 33.00
- PolyPhen-2 1.00
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available