W29* (p.Trp29Ter) variant of CPS1 (P31327)
W29* (p.Trp29Ter) in CPS1 (P31327) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
W29* (p.Trp29Ter) variant details
- p.Trp29Ter
- rs2469040102
- NCI-TCGA Cosmic COSV5180
- cosmic curated COSV51803
- ClinGen CA350432767
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.676
- CADD 36.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available