N127N (p.Asn127Asn) variant of TPMT (Thiopurine S-methyltransferase)
N127N (p.Asn127Asn) in TPMT (Thiopurine S-methyltransferase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
N127N (p.Asn127Asn) variant details
- p.Asn127Asn
- rs1435127761
- gnomAD 6-18139703-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0889
- CADD 5.91
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Literature evidence available