E13G (p.Glu13Gly) variant of SLC22A1 (O15245)
E13G (p.Glu13Gly) in SLC22A1 (O15245) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
E13G (p.Glu13Gly) variant details
- p.Glu13Gly
- gnomAD 6-160121973-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.248
- REVEL 0.14
- CADD 16.60
- PolyPhen-2 0.03
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available