K20E (p.Lys20Glu) variant of TPMT (Thiopurine S-methyltransferase)
K20E (p.Lys20Glu) in TPMT (Thiopurine S-methyltransferase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
K20E (p.Lys20Glu) variant details
- p.Lys20Glu
- rs1438651791
- ClinGen CA362840020
- ClinVar RCV004321414
- TOPMed rs1438651791
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.289
- REVEL 0.14
- CADD 21.40
- PolyPhen-2 0.11
- SIFT 0.13
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0011)
- Structural context available