G7S (p.Gly7Ser) variant of SLC34A3 (Q8N130)
G7S (p.Gly7Ser) in SLC34A3 (Q8N130) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Autosomal recessive hypophosphatemic bone disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
G7S (p.Gly7Ser) variant details
- p.Gly7Ser
- rs759744880
- ClinGen CA5364166
- ClinVar RCV002573647
- ClinVar RCV005042863
- Uncertain significance
- not provided; Autosomal recessive hypophosphatemic bone disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.209
- MetaLR 0.05
- MetaSVM -1.02
- CADD 8.69
- PolyPhen-2 0.01
- SIFT 0.03
- ClinVar: Uncertain significance (not provided; Autosomal recessive hypophosphatemic bone disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available