G56* (p.Gly56Ter) variant of SPINK5 (Q9NQ38)
G56* (p.Gly56Ter) in SPINK5 (Q9NQ38) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
G56* (p.Gly56Ter) variant details
- p.Gly56Ter
- gnomAD 5-148070407-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.519
- CADD 34.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available