L58del (p.Leu58del) variant of ATL1 (Atlastin-1)
L58del (p.Leu58del) in ATL1 (Atlastin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
L58del (p.Leu58del) variant details
- gnomAD 14-50587964-CCTT-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.363
- CADD 19.40
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available