S4A (p.Ser4Ala) variant of NUDT15 (Q9NV35)
S4A (p.Ser4Ala) in NUDT15 (Q9NV35) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
S4A (p.Ser4Ala) variant details
- p.Ser4Ala
- rs757433141
- gnomAD 13-48037750-ACGGC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.263
- CADD 22.50
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Literature evidence available