D16R (p.Asp16Arg) variant of SLC34A3 (Q8N130)
D16R (p.Asp16Arg) in SLC34A3 (Q8N130) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
D16R (p.Asp16Arg) variant details
- p.Asp16Arg
- gnomAD 9-137231746-TGGAC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.732
- CADD 24.00
- Population evidence available
- Structural context available
- Literature evidence available