L3V (p.Leu3Val) variant of SLC18A2 (Q05940)
L3V (p.Leu3Val) in SLC18A2 (Q05940) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
L3V (p.Leu3Val) variant details
- p.Leu3Val
- gnomAD 10-117241700-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- CADD 18.80
- PolyPhen-2 0.05
- SIFT 0.09
- Most common in the Latino/Admixed American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available