L3R (p.Leu3Arg) variant of SLC18A2 (Q05940)
L3R (p.Leu3Arg) in SLC18A2 (Q05940) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
L3R (p.Leu3Arg) variant details
- p.Leu3Arg
- gnomAD 10-117241701-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.543
- CADD 27.80
- PolyPhen-2 0.55
- SIFT 0.03
- Most common in the East Asian population (allele frequency 2.6e-05)
- Structural context available
- Literature evidence available