Q18* (p.Gln18Ter) variant of SPINK5 (Q9NQ38)
Q18* (p.Gln18Ter) in SPINK5 (Q9NQ38) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
Q18* (p.Gln18Ter) variant details
- p.Gln18Ter
- gnomAD 5-148064096-C-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.624
- CADD 36.00
- Population evidence available
- Structural context available
- Literature evidence available