E9Q (p.Glu9Gln) variant of SLC22A1 (O15245)
E9Q (p.Glu9Gln) in SLC22A1 (O15245) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
E9Q (p.Glu9Gln) variant details
- p.Glu9Gln
- gnomAD rs1387697215
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- REVEL 0.21
- CADD 16.30
- PolyPhen-2 0.06
- SIFT 0.14
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available