Q27* (p.Gln27Ter) variant of SPINK5 (Q9NQ38)
Q27* (p.Gln27Ter) in SPINK5 (Q9NQ38) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data and structural context.
Q27* (p.Gln27Ter) variant details
- p.Gln27Ter
- cosmic curated COSV10639
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.882
- CADD 49.00
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available