L47L (p.Leu47Leu) variant of SLC34A3 (Q8N130)
L47L (p.Leu47Leu) in SLC34A3 (Q8N130) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
L47L (p.Leu47Leu) variant details
- p.Leu47Leu
- gnomAD 9-137232127-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.199
- CADD 6.91
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available