P35R (p.Pro35Arg) variant of SLC34A3 (Q8N130)
P35R (p.Pro35Arg) in SLC34A3 (Q8N130) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
P35R (p.Pro35Arg) variant details
- p.Pro35Arg
- gnomAD 9-137232089-CCA-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.688
- CADD 21.40
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available