D15Y (p.Asp15Tyr) variant of TPMT (Thiopurine S-methyltransferase)
D15Y (p.Asp15Tyr) in TPMT (Thiopurine S-methyltransferase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
D15Y (p.Asp15Tyr) variant details
- p.Asp15Tyr
- ExAC rs771278148
- gnomAD rs771278148
- Missense
- Variant Prioritization Score for Impact Estimate 0.236
- REVEL 0.34
- CADD 6.04
- PolyPhen-2 0.22
- SIFT 0.00
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available