A5A (p.Ala5Ala) variant of NUDT15 (Q9NV35)
A5A (p.Ala5Ala) in NUDT15 (Q9NV35) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
A5A (p.Ala5Ala) variant details
- p.Ala5Ala
- gnomAD 13-48037761-A-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.128
- CADD 6.70
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Literature evidence available