p.Leu32dup variant of SLC18A2 (Q05940)
p.Leu32dup in SLC18A2 (Q05940) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
p.Leu32dup variant details
- rs1844057938
- gnomAD 10-117241779-C-CG
- Inframe Insertion
- Variant Prioritization Score for Impact Estimate 0.726
- CADD 22.40
- Population evidence available
- Structural context available
- Literature evidence available