Q23* (p.Gln23Ter) variant of NPC1 (O15118)
Q23* (p.Gln23Ter) in NPC1 (O15118) 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 0.58 / 1. The record also includes population frequency data and structural context.
Q23* (p.Gln23Ter) variant details
- p.Gln23Ter
- NCI-TCGA Cosmic COSV9934
- Variant assessed as somatic; high impact.
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.581
- CADD 36.00
- UniProt: Variant assessed as somatic; high impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available