H17H (p.His17His) variant of ATM (Serine-protein kinase ATM)
H17H (p.His17His) in ATM (Serine-protein kinase ATM) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
H17H (p.His17His) variant details
- p.His17His
- rs1591446045
- gnomAD 11-108227675-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.149
- CADD 9.65
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available
- Literature evidence available