K77E (p.Lys77Glu) variant of TPMT (Thiopurine S-methyltransferase)
K77E (p.Lys77Glu) in TPMT (Thiopurine S-methyltransferase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
K77E (p.Lys77Glu) variant details
- p.Lys77Glu
- Ensembl rs1561891831
- Missense
- Variant Prioritization Score for Impact Estimate 0.459
- REVEL 0.31
- CADD 28.50
- PolyPhen-2 0.91
- SIFT 0.00
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available