A53P (p.Ala53Pro) variant of SLC22A6 (Q4U2R8)
A53P (p.Ala53Pro) in SLC22A6 (Q4U2R8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
A53P (p.Ala53Pro) variant details
- p.Ala53Pro
- 1000Genomes rs201266950
- ExAC rs201266950
- TOPMed rs201266950
- gnomAD rs201266950
- Missense
- Variant Prioritization Score for Impact Estimate 0.149
- REVEL 0.01
- MetaLR 0.11
- MetaSVM -1.02
- CADD 11.20
- PolyPhen-2 0.01
- SIFT 0.44
- Population evidence available
- Structural context available