P2R (p.Pro2Arg) variant of SLC34A3 (Q8N130)
P2R (p.Pro2Arg) 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 0.24 / 1. The record also includes population frequency data.
P2R (p.Pro2Arg) variant details
- p.Pro2Arg
- 1000Genomes rs566626846
- ExAC rs566626846
- TOPMed rs566626846
- gnomAD rs566626846
- Uncertain significance
- Autosomal recessive hypophosphatemic bone disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- MetaLR 0.05
- MetaSVM -1.06
- CADD 16.40
- PolyPhen-2 0.34
- SIFT 0.12
- ClinVar: Uncertain significance (Autosomal recessive hypophosphatemic bone disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:DRUZE population (allele frequency 0.014)