A116L (p.Ala116Leu) variant of SLC25A20 (O43772)
A116L (p.Ala116Leu) in SLC25A20 (O43772) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
A116L (p.Ala116Leu) variant details
- p.Ala116Leu
- gnomAD 3-48879428-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.811
- CADD 32.00
- Population evidence available
- Structural context available
- Literature evidence available