K58K (p.Lys58Lys) variant of SLC34A3 (Q8N130)
K58K (p.Lys58Lys) in SLC34A3 (Q8N130) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
K58K (p.Lys58Lys) variant details
- p.Lys58Lys
- gnomAD 9-137232160-A-G
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.592
- CADD 22.50
- Most common in the Middle Eastern population (allele frequency 0.00035)
- Structural context available
- Literature evidence available