G406V (p.Gly406Val) variant of SLC34A3 (Q8N130)
G406V (p.Gly406Val) in SLC34A3 (Q8N130) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Autosomal recessive hypophosphatemic bone disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes structural context.
G406V (p.Gly406Val) variant details
- p.Gly406Val
- rs139408872
- ClinGen CA375737751
- ClinVar RCV002246721
- ESP rs139408872
- Pathogenic
- Autosomal recessive hypophosphatemic bone disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.852
- AlphaMissense 0.87
- MetaLR 0.87
- MetaSVM 0.96
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.66
- ClinVar: Pathogenic (Autosomal recessive hypophosphatemic bone disease)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available