T425I (p.Thr425Ile) variant of SLC34A3 (Q8N130)
T425I (p.Thr425Ile) 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 0.86 / 1.
T425I (p.Thr425Ile) variant details
- p.Thr425Ile
- rs1060499697
- ClinGen CA16609447
- ClinVar RCV000449572
- Ensembl rs1060499697
- Likely pathogenic
- Autosomal recessive hypophosphatemic bone disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.862
- AlphaMissense 0.94
- MetaLR 0.87
- MetaSVM 0.98
- PolyPhen-2 0.95
- SIFT 0.00
- EVE 0.72
- ClinVar: Likely pathogenic (Autosomal recessive hypophosphatemic bone disease)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic