T30I (p.Thr30Ile) variant of SLC34A3 (Q8N130)
T30I (p.Thr30Ile) 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 0.20 / 1. The record also includes population frequency data.
T30I (p.Thr30Ile) variant details
- p.Thr30Ile
- TOPMed rs1229665252
- gnomAD rs1229665252
- Uncertain significance
- Autosomal recessive hypophosphatemic bone disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.202
- MetaLR 0.05
- MetaSVM -1.00
- CADD 2.04
- PolyPhen-2 0.00
- SIFT 0.14
- ClinVar: Uncertain significance (Autosomal recessive hypophosphatemic bone disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)