N30K (p.Asn30Lys) variant of SLC22A8 (Organic anion transporter 3)
N30K (p.Asn30Lys) in SLC22A8 (Organic anion transporter 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
N30K (p.Asn30Lys) variant details
- p.Asn30Lys
- 1000Genomes rs141819551
- ExAC rs141819551
- TOPMed rs141819551
- gnomAD rs141819551
- Missense
- Variant Prioritization Score for Impact Estimate 0.177
- REVEL 0.07
- MetaLR 0.10
- MetaSVM -0.95
- CADD 4.24
- PolyPhen-2 0.08
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available