C28G (p.Cys28Gly) variant of NUDT15 (Q9NV35)
C28G (p.Cys28Gly) in NUDT15 (Q9NV35) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
C28G (p.Cys28Gly) variant details
- p.Cys28Gly
- rs777311140
- gnomAD 13-48037825-C-CGC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.783
- CADD 22.90
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.006)
- Structural context available
- Literature evidence available