H12F (p.His12Phe) variant of SLC34A3 (Q8N130)
H12F (p.His12Phe) in SLC34A3 (Q8N130) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
H12F (p.His12Phe) variant details
- p.His12Phe
- gnomAD 9-137231712-T-TCC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.256
- CADD 22.40
- Population evidence available
- Structural context available
- Literature evidence available