A413E (p.Ala413Glu) variant of SLC34A3 (Q8N130)
A413E (p.Ala413Glu) in SLC34A3 (Q8N130) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Autosomal recessive hypophosphatemic bone disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes published literature.
A413E (p.Ala413Glu) variant details
- p.Ala413Glu
- rs121918235
- ClinGen CA115010
- ClinVar RCV000001493
- UniProt VAR 025714
- Pathogenic/Likely pathogenic
- Autosomal recessive hypophosphatemic bone disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.539
- AlphaMissense 0.15
- MetaLR 0.70
- MetaSVM 0.28
- PolyPhen-2 0.99
- SIFT 0.25
- EVE 0.13
- ClinVar: Pathogenic/Likely pathogenic (Autosomal recessive hypophosphatemic bone disease)
- EBI: Pathogenic (in HHRH)
- UniProt: Pathogenic (in HHRH)
- Cited in: Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter… (PMID 16358215)
- Cited in: SLC34A3 mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria predict a key role for the… (PMID 16358214)