S22E (p.Ser22Glu) variant of NUDT15 (Q9NV35)
S22E (p.Ser22Glu) in NUDT15 (Q9NV35) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
S22E (p.Ser22Glu) variant details
- p.Ser22Glu
- gnomAD 13-48037795-G-GGA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.68
- CADD 27.70
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Literature evidence available