I56I (p.Ile56Ile) variant of ATL1 (Atlastin-1)
I56I (p.Ile56Ile) in ATL1 (Atlastin-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
I56I (p.Ile56Ile) variant details
- p.Ile56Ile
- gnomAD 14-50587964-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.297
- CADD 10.10
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available