S51L (p.Ser51Leu) variant of SLC25A14 (O95258)
S51L (p.Ser51Leu) in SLC25A14 (O95258) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
S51L (p.Ser51Leu) variant details
- p.Ser51Leu
- gnomAD X-130345254-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.712
- CADD 26.80
- Population evidence available
- Structural context available
- Literature evidence available