H47N (p.His47Asn) variant of SLC22A6 (Q4U2R8)
H47N (p.His47Asn) in SLC22A6 (Q4U2R8) 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.
H47N (p.His47Asn) variant details
- p.His47Asn
- ExAC rs776645979
- TOPMed rs776645979
- gnomAD rs776645979
- Missense
- Variant Prioritization Score for Impact Estimate 0.648
- REVEL 0.62
- MetaLR 0.50
- MetaSVM 0.22
- CADD 26.40
- PolyPhen-2 1.00
- SIFT 0.01
- Population evidence available
- Structural context available