S125L (p.Ser125Leu) variant of TPMT (Thiopurine S-methyltransferase)
S125L (p.Ser125Leu) in TPMT (Thiopurine S-methyltransferase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
S125L (p.Ser125Leu) variant details
- p.Ser125Leu
- 1000Genomes rs200220210
- ESP rs200220210
- ExAC rs200220210
- TOPMed rs200220210
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- REVEL 0.21
- CADD 26.70
- PolyPhen-2 0.36
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available