S134N (p.Ser134Asn) variant of TPMT (Thiopurine S-methyltransferase)
S134N (p.Ser134Asn) in TPMT (Thiopurine S-methyltransferase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
S134N (p.Ser134Asn) variant details
- p.Ser134Asn
- Ensembl rs1784107463
- Missense
- Variant Prioritization Score for Impact Estimate 0.122
- REVEL 0.14
- CADD 1.79
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available