T24D (p.Thr24Asp) variant of SLC34A3 (Q8N130)
T24D (p.Thr24Asp) in SLC34A3 (Q8N130) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
T24D (p.Thr24Asp) variant details
- p.Thr24Asp
- gnomAD 9-137231766-G-GA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.477
- CADD 23.90
- Population evidence available
- Structural context available
- Literature evidence available