R55R (p.Arg55Arg) variant of ATL1 (Atlastin-1)
R55R (p.Arg55Arg) in ATL1 (Atlastin-1) is a synonymous 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.
R55R (p.Arg55Arg) variant details
- p.Arg55Arg
- rs149901427
- gnomAD 14-50587959-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.554
- CADD 11.50
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available
- Literature evidence available