G64S (p.Gly64Ser) variant of SLC34A3 (Q8N130)
G64S (p.Gly64Ser) in SLC34A3 (Q8N130) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
G64S (p.Gly64Ser) variant details
- p.Gly64Ser
- ESP rs143930538
- ExAC rs143930538
- TOPMed rs143930538
- gnomAD rs143930538
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.141
- MetaLR 0.03
- MetaSVM -1.03
- CADD 6.76
- PolyPhen-2 0.02
- SIFT 0.10
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available