Y13C (p.Tyr13Cys) variant of TPMT (Thiopurine S-methyltransferase)
Y13C (p.Tyr13Cys) in TPMT (Thiopurine S-methyltransferase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
Y13C (p.Tyr13Cys) variant details
- p.Tyr13Cys
- gnomAD rs1275757875
- Missense
- Variant Prioritization Score for Impact Estimate 0.189
- REVEL 0.15
- CADD 15.10
- PolyPhen-2 0.01
- SIFT 0.15
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- Structural context available