V40V (p.Val40Val) variant of SLC18A2 (Q05940)
V40V (p.Val40Val) in SLC18A2 (Q05940) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
V40V (p.Val40Val) variant details
- p.Val40Val
- gnomAD 10-117241813-G-T
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.47
- CADD 16.70
- Population evidence available
- Structural context available
- Literature evidence available