E111Q (p.Glu111Gln) variant of SLC22A8 (Organic anion transporter 3)
E111Q (p.Glu111Gln) in SLC22A8 (Organic anion transporter 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
E111Q (p.Glu111Gln) variant details
- p.Glu111Gln
- cosmic curated COSV10732
- Missense
- Variant Prioritization Score for Impact Estimate 0.52
- REVEL 0.37
- MetaLR 0.37
- MetaSVM -0.40
- CADD 29.00
- PolyPhen-2 0.94
- SIFT 0.05
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available