G36S (p.Gly36Ser) variant of TPMT (Thiopurine S-methyltransferase)
G36S (p.Gly36Ser) 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 0.15 / 1. The record also includes population frequency data and structural context.
G36S (p.Gly36Ser) variant details
- p.Gly36Ser
- rs750424422
- NCI-TCGA Cosmic COSV5943
- ExAC rs750424422
- TOPMed rs750424422
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.15
- REVEL 0.13
- CADD 3.69
- PolyPhen-2 0.11
- SIFT 0.71
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available