E114K (p.Glu114Lys) variant of TPMT (Thiopurine S-methyltransferase)
E114K (p.Glu114Lys) 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 0.64 / 1. The record also includes population frequency data and structural context.
E114K (p.Glu114Lys) variant details
- p.Glu114Lys
- rs115106679
- NCI-TCGA Cosmic COSV5943
- 1000Genomes rs115106679
- ExAC rs115106679
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.636
- REVEL 0.71
- CADD 22.40
- PolyPhen-2 0.53
- SIFT 0.23
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available