H20Q (p.His20Gln) variant of SLC22A8 (Organic anion transporter 3)
H20Q (p.His20Gln) in SLC22A8 (Organic anion transporter 3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
H20Q (p.His20Gln) variant details
- p.His20Gln
- rs771649606
- ClinGen CA6060020
- ClinVar RCV004088531
- ExAC rs771649606
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.102
- REVEL 0.08
- MetaLR 0.07
- MetaSVM -1.04
- CADD 2.58
- PolyPhen-2 0.02
- SIFT 0.35
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)
- Structural context available