L28P (p.Leu28Pro) variant of SLC22A6 (Q4U2R8)
L28P (p.Leu28Pro) in SLC22A6 (Q4U2R8) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
L28P (p.Leu28Pro) variant details
- p.Leu28Pro
- TOPMed rs1034098699
- gnomAD rs1034098699
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.378
- REVEL 0.31
- MetaLR 0.22
- MetaSVM -0.68
- CADD 23.40
- PolyPhen-2 0.60
- SIFT 0.04
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available