H34D (p.His34Asp) variant of SLC22A8 (Organic anion transporter 3)
H34D (p.His34Asp) in SLC22A8 (Organic anion transporter 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
H34D (p.His34Asp) variant details
- p.His34Asp
- 1000Genomes rs201886853
- ExAC rs201886853
- gnomAD rs201886853
- Missense
- Variant Prioritization Score for Impact Estimate 0.653
- REVEL 0.66
- MetaLR 0.43
- MetaSVM -0.03
- CADD 24.40
- PolyPhen-2 0.96
- SIFT 0.00
- Most common in the 1KG:JPT population (allele frequency 0.0049)
- Structural context available