N127E (p.Asn127Glu) variant of TPMT (Thiopurine S-methyltransferase)
N127E (p.Asn127Glu) in TPMT (Thiopurine S-methyltransferase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
N127E (p.Asn127Glu) variant details
- p.Asn127Glu
- rs1157568159
- gnomAD 6-18139705-T-TC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.48
- CADD 32.00
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available
- Literature evidence available