G44V (p.Gly44Val) variant of SLCO1B1 (Q9Y6L6)
G44V (p.Gly44Val) in SLCO1B1 (Q9Y6L6) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
G44V (p.Gly44Val) variant details
- p.Gly44Val
- gnomAD 12-21172694-AG-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.199
- CADD 16.70
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Literature evidence available