R61A (p.Arg61Ala) variant of SLC34A3 (Q8N130)
R61A (p.Arg61Ala) in SLC34A3 (Q8N130) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
R61A (p.Arg61Ala) variant details
- p.Arg61Ala
- rs1473192539
- gnomAD 9-137232578-TC-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.34
- CADD 22.60
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available