A53S (p.Ala53Ser) variant of SLC22A6 (Q4U2R8)
A53S (p.Ala53Ser) 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.
A53S (p.Ala53Ser) variant details
- p.Ala53Ser
- 1000Genomes rs201266950
- ExAC rs201266950
- TOPMed rs201266950
- gnomAD rs201266950
- Missense
- Variant Prioritization Score for Impact Estimate 0.149
- REVEL 0.01
- MetaLR 0.12
- MetaSVM -1.03
- CADD 10.40
- PolyPhen-2 0.06
- SIFT 0.59
- Population evidence available
- Structural context available