F114L (p.Phe114Leu) variant of SLC25A20 (O43772)
F114L (p.Phe114Leu) in SLC25A20 (O43772) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
F114L (p.Phe114Leu) variant details
- p.Phe114Leu
- gnomAD 3-48879432-CA-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.63
- CADD 29.50
- Population evidence available
- Structural context available
- Literature evidence available