A34T (p.Ala34Thr) variant of SLC34A3 (Q8N130)
A34T (p.Ala34Thr) 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 0.15 / 1. The record also includes population frequency data and structural context.
A34T (p.Ala34Thr) variant details
- p.Ala34Thr
- gnomAD rs746590268
- Uncertain significance
- Autosomal recessive hypophosphatemic bone disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.155
- MetaLR 0.05
- MetaSVM -1.00
- CADD 9.01
- PolyPhen-2 0.00
- SIFT 0.13
- ClinVar: Uncertain significance (Autosomal recessive hypophosphatemic bone disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-06)
- Structural context available