G40R (p.Gly40Arg) variant of SLC34A3 (Q8N130)
G40R (p.Gly40Arg) in SLC34A3 (Q8N130) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Autosomal recessive hypophosphatemic bone disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
G40R (p.Gly40Arg) variant details
- p.Gly40Arg
- gnomAD rs1278663821
- Uncertain significance
- Autosomal recessive hypophosphatemic bone disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.229
- MetaLR 0.06
- MetaSVM -1.04
- CADD 11.60
- SIFT 0.31
- ClinVar: Uncertain significance (Autosomal recessive hypophosphatemic bone disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available