P48S (p.Pro48Ser) variant of SLC34A3 (Q8N130)
P48S (p.Pro48Ser) in SLC34A3 (Q8N130) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes variant effect predictions and structural context.
P48S (p.Pro48Ser) variant details
- p.Pro48Ser
- gnomAD rs1016356685
- Uncertain significance
- Missense
- MetaLR 0.05
- MetaSVM -1.06
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available