T25N (p.Thr25Asn) variant of TPMT (Thiopurine S-methyltransferase)
T25N (p.Thr25Asn) in TPMT (Thiopurine S-methyltransferase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
T25N (p.Thr25Asn) variant details
- p.Thr25Asn
- gnomAD rs1163704950
- Missense
- Variant Prioritization Score for Impact Estimate 0.205
- REVEL 0.10
- CADD 22.70
- PolyPhen-2 0.41
- SIFT 0.01
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available