G457S (p.Gly457Ser) variant of SLC34A3 (Q8N130)
G457S (p.Gly457Ser) in SLC34A3 (Q8N130) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Autosomal recessive hypophosphatemic bone disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data.
G457S (p.Gly457Ser) variant details
- p.Gly457Ser
- rs772211127
- ClinGen CA5364930
- ClinVar RCV003557495
- ExAC rs772211127
- Pathogenic
- not provided; Autosomal recessive hypophosphatemic bone disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.781
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.02
- ClinVar: Pathogenic (not provided; Autosomal recessive hypophosphatemic bone disease)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 0.00041)