N92K (p.Asn92Lys) variant of SLC22A6 (Q4U2R8)
N92K (p.Asn92Lys) in SLC22A6 (Q4U2R8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
N92K (p.Asn92Lys) variant details
- p.Asn92Lys
- TOPMed rs1186048147
- gnomAD rs1186048147
- Missense
- Variant Prioritization Score for Impact Estimate 0.204
- REVEL 0.17
- MetaLR 0.31
- MetaSVM -0.50
- CADD 16.00
- PolyPhen-2 0.98
- SIFT 0.01
- Population evidence available
- Structural context available