Q6S (p.Gln6Ser) variant of NUDT15 (Q9NV35)
Q6S (p.Gln6Ser) in NUDT15 (Q9NV35) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
Q6S (p.Gln6Ser) variant details
- p.Gln6Ser
- rs1566105829
- gnomAD 13-48037760-CA-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.473
- CADD 15.20
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available