L47H (p.Leu47His) variant of SLC34A3 (Q8N130)
L47H (p.Leu47His) 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 0.36 / 1. The record also includes population frequency data and structural context.
L47H (p.Leu47His) variant details
- p.Leu47His
- rs757815865
- ClinGen CA5364218
- ClinVar RCV001881897
- ClinVar RCV002482713
- Uncertain significance
- not provided; Autosomal recessive hypophosphatemic bone disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- MetaLR 0.15
- MetaSVM -0.91
- CADD 24.60
- PolyPhen-2 0.67
- SIFT 0.00
- 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 0.00011)
- Structural context available