E27* (p.Glu27Ter) variant of ATL1 (Atlastin-1)
E27* (p.Glu27Ter) in ATL1 (Atlastin-1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
E27* (p.Glu27Ter) variant details
- p.Glu27Ter
- gnomAD 14-50587875-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.862
- CADD 38.00
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available
- Literature evidence available