E63* (p.Glu63Ter) variant of NLRP1 (Q9C000)
E63* (p.Glu63Ter) in NLRP1 (Q9C000) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data.
E63* (p.Glu63Ter) variant details
- p.Glu63Ter
- cosmic curated COSV99334
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.396
- CADD 33.00
- Population evidence available