P27L (p.Pro27Leu) variant of SLC22A6 (Q4U2R8)
P27L (p.Pro27Leu) in SLC22A6 (Q4U2R8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
P27L (p.Pro27Leu) variant details
- p.Pro27Leu
- TOPMed rs1361999552
- gnomAD rs1361999552
- Missense
- Variant Prioritization Score for Impact Estimate 0.553
- REVEL 0.45
- MetaLR 0.36
- MetaSVM -0.31
- CADD 28.20
- PolyPhen-2 1.00
- SIFT 0.01
- Population evidence available
- Structural context available