D6E (p.Asp6Glu) variant of SLC22A2 (O15244)
D6E (p.Asp6Glu) in SLC22A2 (O15244) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
D6E (p.Asp6Glu) variant details
- p.Asp6Glu
- ESP rs139039970
- ExAC rs139039970
- TOPMed rs139039970
- gnomAD rs139039970
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- REVEL 0.39
- CADD 16.50
- PolyPhen-2 0.90
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available