Q17H (p.Gln17His) variant of SLC22A8 (Organic anion transporter 3)
Q17H (p.Gln17His) in SLC22A8 (Organic anion transporter 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
Q17H (p.Gln17His) variant details
- p.Gln17His
- ExAC rs11568494
- TOPMed rs11568494
- gnomAD rs11568494
- Missense
- Variant Prioritization Score for Impact Estimate 0.44
- REVEL 0.43
- MetaLR 0.46
- MetaSVM 0.11
- CADD 22.30
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available