Q44R (p.Gln44Arg) variant of TPMT (Thiopurine S-methyltransferase)
Q44R (p.Gln44Arg) in TPMT (Thiopurine S-methyltransferase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
Q44R (p.Gln44Arg) variant details
- p.Gln44Arg
- rs763783722
- ClinGen CA3650308
- ClinVar RCV004329021
- ExAC rs763783722
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.154
- REVEL 0.06
- CADD 18.30
- PolyPhen-2 0.01
- SIFT 0.17
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0011)
- Structural context available