S123N (p.Ser123Asn) variant of TPMT (Thiopurine S-methyltransferase)
S123N (p.Ser123Asn) in TPMT (Thiopurine S-methyltransferase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
S123N (p.Ser123Asn) variant details
- p.Ser123Asn
- gnomAD rs1330046697
- Missense
- Variant Prioritization Score for Impact Estimate 0.259
- REVEL 0.15
- CADD 19.10
- PolyPhen-2 0.04
- SIFT 0.22
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available