G404R (p.Gly404Arg) variant of SLC34A3 (Q8N130)
G404R (p.Gly404Arg) 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 0.81 / 1. The record also includes population frequency data.
G404R (p.Gly404Arg) variant details
- p.Gly404Arg
- rs759768852
- ClinGen CA5364842
- cosmic curated COSV10820
- ClinVar RCV000625609
- Likely pathogenic
- Autosomal recessive hypophosphatemic bone disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.81
- CADD 34.00
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Likely pathogenic (Autosomal recessive hypophosphatemic bone disease)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available