S54S (p.Ser54Ser) variant of SLC34A3 (Q8N130)
S54S (p.Ser54Ser) in SLC34A3 (Q8N130) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
S54S (p.Ser54Ser) variant details
- p.Ser54Ser
- rs779250807
- gnomAD 9-137232148-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.245
- CADD 8.49
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available