L25E (p.Leu25Glu) variant of SLC34A3 (Q8N130)
L25E (p.Leu25Glu) in SLC34A3 (Q8N130) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
L25E (p.Leu25Glu) variant details
- p.Leu25Glu
- rs756418351
- gnomAD 9-137231772-ACT-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.556
- CADD 16.30
- Population evidence available
- Structural context available
- Literature evidence available