I44M (p.Ile44Met) variant of SLC18A2 (Q05940)
I44M (p.Ile44Met) in SLC18A2 (Q05940) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
I44M (p.Ile44Met) variant details
- p.Ile44Met
- TOPMed rs1249932065
- gnomAD rs1249932065
- Missense
- Variant Prioritization Score for Impact Estimate 0.612
- CADD 23.70
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available