W21* (p.Trp21Ter) variant of ATL1 (Atlastin-1)
W21* (p.Trp21Ter) in ATL1 (Atlastin-1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
W21* (p.Trp21Ter) variant details
- p.Trp21Ter
- gnomAD 14-50587859-G-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.855
- CADD 37.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available