S125S (p.Ser125Ser) variant of TPMT (Thiopurine S-methyltransferase)
S125S (p.Ser125Ser) in TPMT (Thiopurine S-methyltransferase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data, published literature, and structural context.
S125S (p.Ser125Ser) variant details
- p.Ser125Ser
- gnomAD 6-18139709-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0597
- CADD 2.29
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available