L48L (p.Leu48Leu) variant of SLC18A2 (Q05940)
L48L (p.Leu48Leu) in SLC18A2 (Q05940) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
L48L (p.Leu48Leu) variant details
- p.Leu48Leu
- gnomAD 10-117243993-G-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.39
- CADD 13.20
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available