S124Y (p.Ser124Tyr) variant of TPMT (Thiopurine S-methyltransferase)
S124Y (p.Ser124Tyr) in TPMT (Thiopurine S-methyltransferase) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
S124Y (p.Ser124Tyr) variant details
- p.Ser124Tyr
- NCI-TCGA Cosmic COSV5942
- Ensembl rs1784108274
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- REVEL 0.36
- CADD 29.80
- PolyPhen-2 0.98
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- Structural context available