L12Q (p.Leu12Gln) variant of SLC18A2 (Q05940)
L12Q (p.Leu12Gln) in SLC18A2 (Q05940) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
L12Q (p.Leu12Gln) variant details
- p.Leu12Gln
- gnomAD rs1206612966
- Missense
- Variant Prioritization Score for Impact Estimate 0.681
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the South Asian population (allele frequency 7e-05)
- Structural context available