R468W (p.Arg468Trp) variant of SLC34A3 (Q8N130)
R468W (p.Arg468Trp) in SLC34A3 (Q8N130) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Autosomal recessive hypophosphatemic bone disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and published literature.
R468W (p.Arg468Trp) variant details
- p.Arg468Trp
- rs121918238
- ClinGen CA115016
- cosmic curated COSV63187
- ClinVar RCV000001497
- Pathogenic/Likely pathogenic
- not provided; Autosomal recessive hypophosphatemic bone disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.349
- MetaLR 0.25
- MetaSVM -0.41
- CADD 22.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Autosomal recessive hypophosphatemic bone disease)
- EBI: Pathogenic (in HHRH)
- UniProt: Pathogenic (in HHRH)
- Most common in the Middle Eastern population (allele frequency 0.00035)
- Cited in: SLC34A3 mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria predict a key role for the… (PMID 16358214)
- Cited in: Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter… (PMID 16358215)