Q18P (p.Gln18Pro) variant of SLC22A1 (O15245)
Q18P (p.Gln18Pro) in SLC22A1 (O15245) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
Q18P (p.Gln18Pro) variant details
- p.Gln18Pro
- rs1779940535
- gnomAD 6-160121983-G-GT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.724
- CADD 28.10
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available