P369L (p.Pro369Leu) variant of SLC34A3 (Q8N130)
P369L (p.Pro369Leu) in SLC34A3 (Q8N130) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Autosomal recessive hypophosphatemic bone disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data.
P369L (p.Pro369Leu) variant details
- p.Pro369Leu
- ExAC rs759155749
- TOPMed rs759155749
- gnomAD rs759155749
- Likely pathogenic
- Autosomal recessive hypophosphatemic bone disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.729
- CADD 23.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Autosomal recessive hypophosphatemic bone disease)
- UniProt: Likely pathogenic
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)