C23* (p.Cys23Ter) variant of NUDT15 (Q9NV35)
C23* (p.Cys23Ter) in NUDT15 (Q9NV35) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
C23* (p.Cys23Ter) variant details
- p.Cys23Ter
- gnomAD 13-48037815-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.46
- CADD 35.00
- Most common in the East Asian population (allele frequency 2.6e-05)
- Structural context available
- Literature evidence available