L83L (p.Leu83Leu) variant of ATL1 (Atlastin-1)
L83L (p.Leu83Leu) in ATL1 (Atlastin-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
L83L (p.Leu83Leu) variant details
- p.Leu83Leu
- rs2039119808
- gnomAD 14-50588045-G-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.133
- CADD 7.18
- Population evidence available
- Structural context available
- Literature evidence available