P84L (p.Pro84Leu) variant of SLC22A6 (Q4U2R8)
P84L (p.Pro84Leu) in SLC22A6 (Q4U2R8) is a missense change. Clinical records from ClinVar, EBI, 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 0.32 / 1. The record also includes population frequency data and structural context.
P84L (p.Pro84Leu) variant details
- p.Pro84Leu
- cosmic curated COSV64560
- ExAC rs760859177
- TOPMed rs760859177
- gnomAD rs760859177
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- REVEL 0.34
- MetaLR 0.30
- MetaSVM -0.49
- CADD 14.60
- PolyPhen-2 0.03
- SIFT 0.10
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available