P7A (p.Pro7Ala) variant of NUDT15 (Q9NV35)
P7A (p.Pro7Ala) in NUDT15 (Q9NV35) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
P7A (p.Pro7Ala) variant details
- p.Pro7Ala
- gnomAD 13-48037764-GCC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.552
- CADD 14.00
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Literature evidence available