Q18* (p.Gln18Ter) variant of SLC22A5 (O76082)
Q18* (p.Gln18Ter) in SLC22A5 (O76082) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
Q18* (p.Gln18Ter) variant details
- p.Gln18Ter
- gnomAD 5-132370024-C-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.835
- CADD 40.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available