D137H (p.Asp137His) variant of TPMT (Thiopurine S-methyltransferase)
D137H (p.Asp137His) in TPMT (Thiopurine S-methyltransferase) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
D137H (p.Asp137His) variant details
- p.Asp137His
- rs376217758
- ESP rs376217758
- ExAC rs376217758
- TOPMed rs376217758
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- AlphaMissense 0.25
- MetaLR 0.38
- MetaSVM -0.16
- PolyPhen-2 0.92
- SIFT 0.10
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available