L70M (p.Leu70Met) variant of SLC22A1 (O15245)
L70M (p.Leu70Met) in SLC22A1 (O15245) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
L70M (p.Leu70Met) variant details
- p.Leu70Met
- TOPMed rs1473907452
- gnomAD rs1473907452
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- REVEL 0.38
- CADD 21.60
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available