Q76* (p.Gln76Ter) variant of NLRP1 (Q9C000)
Q76* (p.Gln76Ter) in NLRP1 (Q9C000) is a protein-truncating change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data.
Q76* (p.Gln76Ter) variant details
- p.Gln76Ter
- NCI-TCGA Cosmic COSV5257
- cosmic curated COSV52576
- Variant assessed as somatic; high impact.
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.307
- CADD 32.00
- UniProt: Variant assessed as somatic; high impact.
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)