L30Q (p.Leu30Gln) variant of SLC22A6 (Q4U2R8)
L30Q (p.Leu30Gln) in SLC22A6 (Q4U2R8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
L30Q (p.Leu30Gln) variant details
- p.Leu30Gln
- gnomAD rs1462177656
- Missense
- Variant Prioritization Score for Impact Estimate 0.524
- REVEL 0.47
- MetaLR 0.44
- MetaSVM -0.25
- CADD 27.60
- PolyPhen-2 0.98
- SIFT 0.00
- Population evidence available
- Structural context available