P48L (p.Pro48Leu) variant of SLC34A3 (Q8N130)
P48L (p.Pro48Leu) in SLC34A3 (Q8N130) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
P48L (p.Pro48Leu) variant details
- p.Pro48Leu
- rs1564415555
- gnomAD 9-137232126-TC-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.394
- CADD 23.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available