S54R (p.Ser54Arg) variant of SLC34A3 (Q8N130)
S54R (p.Ser54Arg) in SLC34A3 (Q8N130) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
S54R (p.Ser54Arg) variant details
- p.Ser54Arg
- ExAC rs779250807
- gnomAD rs779250807
- Missense
- Variant Prioritization Score for Impact Estimate 0.349
- MetaLR 0.05
- MetaSVM -1.05
- CADD 20.80
- PolyPhen-2 0.03
- SIFT 0.03
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available