N127S (p.Asn127Ser) variant of TPMT (Thiopurine S-methyltransferase)
N127S (p.Asn127Ser) 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.
N127S (p.Asn127Ser) variant details
- p.Asn127Ser
- TOPMed rs1340845395
- gnomAD rs1340845395
- Missense
- Variant Prioritization Score for Impact Estimate 0.186
- REVEL 0.14
- CADD 16.90
- PolyPhen-2 0.03
- SIFT 0.11
- Most common in the Non-Finnish European population (allele frequency 5.8e-05)
- Structural context available