Q20* (p.Gln20Ter) variant of KEAP1 (Q14145)
Q20* (p.Gln20Ter) in KEAP1 (Q14145) 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 0.26 / 1. The record also includes population frequency data and structural context.
Q20* (p.Gln20Ter) variant details
- p.Gln20Ter
- NCI-TCGA Cosmic COSV5030
- cosmic curated COSV50309
- Ensembl rs2144631097
- Variant assessed as somatic; high impact.
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.261
- CADD 25.50
- UniProt: Variant assessed as somatic; high impact.
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available