V40M (p.Val40Met) variant of SLC18A2 (Q05940)
V40M (p.Val40Met) in SLC18A2 (Q05940) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
V40M (p.Val40Met) variant details
- p.Val40Met
- TOPMed rs1441146404
- gnomAD rs1441146404
- Missense
- Variant Prioritization Score for Impact Estimate 0.81
- CADD 31.00
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available