D137Y (p.Asp137Tyr) variant of TPMT (Thiopurine S-methyltransferase)
D137Y (p.Asp137Tyr) in TPMT (Thiopurine S-methyltransferase) is a missense change. Clinical records from ClinVar 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 0.59 / 1. The record also includes population frequency data and structural context.
D137Y (p.Asp137Tyr) variant details
- p.Asp137Tyr
- rs376217758
- ESP rs376217758
- ExAC rs376217758
- TOPMed rs376217758
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.592
- REVEL 0.52
- AlphaMissense 0.25
- MetaLR 0.38
- MetaSVM -0.16
- CADD 29.60
- PolyPhen-2 0.92
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- Structural context available