G126A (p.Gly126Ala) variant of TPMT (Thiopurine S-methyltransferase)
G126A (p.Gly126Ala) 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 0.52 / 1. The record also includes population frequency data and structural context.
G126A (p.Gly126Ala) variant details
- p.Gly126Ala
- ExAC rs773335632
- TOPMed rs773335632
- gnomAD rs773335632
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.521
- REVEL 0.51
- CADD 24.00
- PolyPhen-2 0.48
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- Structural context available