H54E (p.His54Glu) variant of SLCO1B1 (Q9Y6L6)
H54E (p.His54Glu) in SLCO1B1 (Q9Y6L6) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
H54E (p.His54Glu) variant details
- p.His54Glu
- gnomAD 12-21172724-TCATA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.504
- CADD 31.00
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Literature evidence available