M48R (p.Met48Arg) variant of SLCO1B1 (Q9Y6L6)
M48R (p.Met48Arg) in SLCO1B1 (Q9Y6L6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
M48R (p.Met48Arg) variant details
- p.Met48Arg
- TOPMed rs1233372012
- gnomAD rs1233372012
- Missense
- Variant Prioritization Score for Impact Estimate 0.596
- REVEL 0.57
- CADD 25.10
- Most common in the Non-Finnish European population (allele frequency 5.8e-05)
- Structural context available