Q14Q (p.Gln14Gln) variant of ATM (Serine-protein kinase ATM)
Q14Q (p.Gln14Gln) in ATM (Serine-protein kinase ATM) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
Q14Q (p.Gln14Gln) variant details
- p.Gln14Gln
- rs771378101
- gnomAD 11-108227666-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.137
- CADD 8.01
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available