S106F (p.Ser106Phe) variant of TPMT (Thiopurine S-methyltransferase)
S106F (p.Ser106Phe) in TPMT (Thiopurine S-methyltransferase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
S106F (p.Ser106Phe) variant details
- p.Ser106Phe
- ExAC rs764606523
- gnomAD rs764606523
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- REVEL 0.28
- CADD 25.70
- PolyPhen-2 0.89
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- Structural context available