R8S (p.Arg8Ser) variant of NUDT15 (Q9NV35)
R8S (p.Arg8Ser) in NUDT15 (Q9NV35) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
R8S (p.Arg8Ser) variant details
- p.Arg8Ser
- gnomAD 13-48037767-G-GT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.205
- CADD 17.60
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Literature evidence available