H78L (p.His78Leu) variant of SLC22A8 (Organic anion transporter 3)
H78L (p.His78Leu) in SLC22A8 (Organic anion transporter 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
H78L (p.His78Leu) variant details
- p.His78Leu
- Ensembl rs2086655092
- Missense
- Variant Prioritization Score for Impact Estimate 0.17
- REVEL 0.12
- MetaLR 0.16
- MetaSVM -1.00
- CADD 6.73
- PolyPhen-2 0.00
- SIFT 0.42
- Most common in the South Asian population (allele frequency 8.1e-05)
- Structural context available