G29E (p.Gly29Glu) variant of SLC34A3 (Q8N130)
G29E (p.Gly29Glu) in SLC34A3 (Q8N130) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Autosomal recessive hypophosphatemic bone disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
G29E (p.Gly29Glu) variant details
- p.Gly29Glu
- ExAC rs761269502
- TOPMed rs761269502
- gnomAD rs761269502
- Uncertain significance
- Inborn genetic diseases; Autosomal recessive hypophosphatemic bone disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.258
- MetaLR 0.05
- MetaSVM -1.07
- CADD 14.70
- PolyPhen-2 0.22
- SIFT 0.09
- ClinVar: Uncertain significance (Inborn genetic diseases; Autosomal recessive hypophosphatemic bo)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available