G419D (p.Gly419Asp) variant of SLC34A3 (Q8N130)
G419D (p.Gly419Asp) in SLC34A3 (Q8N130) is a missense change. Clinical records from ClinVar, EBI, 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 0.76 / 1. The record also includes population frequency data.
G419D (p.Gly419Asp) variant details
- p.Gly419Asp
- rs2538815347
- ClinVar RCV004556894
- Likely pathogenic
- Autosomal recessive hypophosphatemic bone disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.759
- CADD 27.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Autosomal recessive hypophosphatemic bone disease)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)