P111R (p.Pro111Arg) variant of TPMT (Thiopurine S-methyltransferase)
P111R (p.Pro111Arg) in TPMT (Thiopurine S-methyltransferase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
P111R (p.Pro111Arg) variant details
- p.Pro111Arg
- ExAC rs765582677
- gnomAD rs765582677
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- REVEL 0.18
- CADD 23.50
- PolyPhen-2 0.92
- SIFT 0.02
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- Structural context available