Q20E (p.Gln20Glu) variant of SLC22A1 (O15245)
Q20E (p.Gln20Glu) in SLC22A1 (O15245) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
Q20E (p.Gln20Glu) variant details
- p.Gln20Glu
- gnomAD 6-160121993-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- REVEL 0.37
- CADD 16.80
- PolyPhen-2 0.15
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available