D5E (p.Asp5Glu) variant of SLC22A1 (O15245)
D5E (p.Asp5Glu) in SLC22A1 (O15245) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
D5E (p.Asp5Glu) variant details
- p.Asp5Glu
- gnomAD 6-160121950-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.334
- REVEL 0.53
- CADD 2.02
- PolyPhen-2 0.92
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available