E28K (p.Glu28Lys) variant of SLC34A3 (Q8N130)
E28K (p.Glu28Lys) in SLC34A3 (Q8N130) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
E28K (p.Glu28Lys) variant details
- p.Glu28Lys
- rs1190433400
- TOPMed rs1190433400
- gnomAD rs1190433400
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- MetaLR 0.03
- MetaSVM -0.98
- CADD 14.20
- PolyPhen-2 0.02
- SIFT 0.36
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available