L28V (p.Leu28Val) variant of SLC22A6 (Q4U2R8)
L28V (p.Leu28Val) in SLC22A6 (Q4U2R8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
L28V (p.Leu28Val) variant details
- p.Leu28Val
- ExAC rs769872326
- gnomAD rs769872326
- Missense
- Variant Prioritization Score for Impact Estimate 0.0848
- REVEL 0.05
- MetaLR 0.06
- MetaSVM -1.02
- CADD 0.24
- PolyPhen-2 0.01
- SIFT 1.00
- Population evidence available
- Structural context available