E27del (p.Glu27del) variant of ATL1 (Atlastin-1)
E27del (p.Glu27del) in ATL1 (Atlastin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
E27del (p.Glu27del) variant details
- gnomAD 14-50587868-AGAG-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.312
- CADD 21.10
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- Literature evidence available