Q18Q (p.Gln18Gln) variant of SPINK5 (Q9NQ38)
Q18Q (p.Gln18Gln) in SPINK5 (Q9NQ38) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
Q18Q (p.Gln18Gln) variant details
- p.Gln18Gln
- rs1164321753
- gnomAD 5-148064098-A-G
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.511
- CADD 22.20
- Population evidence available
- Structural context available
- Literature evidence available