S192L (p.Ser192Leu) variant of SLC34A3 (Q8N130)
S192L (p.Ser192Leu) in SLC34A3 (Q8N130) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Hypophosphataemia or rickets; not provided; Autosomal recessive hypophosphatemic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and published literature.
S192L (p.Ser192Leu) variant details
- p.Ser192Leu
- rs199690076
- ClinGen CA247360
- ClinVar RCV000513414
- ClinVar RCV000681813
- Pathogenic/Likely pathogenic
- Hypophosphataemia or rickets; not provided; Autosomal recessive hypophosphatemic
- Missense
- Variant Prioritization Score for Impact Estimate 0.632
- MetaLR 0.50
- MetaSVM -0.29
- CADD 22.80
- PolyPhen-2 0.37
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Hypophosphataemia or rickets; not provided; Autosomal recessive)
- EBI: Pathogenic (in HHRH)
- UniProt: Pathogenic (in HHRH)
- Most common in the Non-Finnish European population (allele frequency 0.0011)
- 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)