D70N (p.Asp70Asn) variant of SLC22A6 (Q4U2R8)
D70N (p.Asp70Asn) in SLC22A6 (Q4U2R8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
D70N (p.Asp70Asn) variant details
- p.Asp70Asn
- TOPMed rs1174200565
- gnomAD rs1174200565
- Missense
- Variant Prioritization Score for Impact Estimate 0.18
- REVEL 0.05
- MetaLR 0.10
- MetaSVM -1.02
- CADD 16.60
- PolyPhen-2 0.16
- SIFT 0.05
- Population evidence available
- Structural context available