R61P (p.Arg61Pro) variant of SLC34A3 (Q8N130)
R61P (p.Arg61Pro) 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 0.33 / 1. The record also includes population frequency data and structural context.
R61P (p.Arg61Pro) variant details
- p.Arg61Pro
- 1000Genomes rs548021746
- ExAC rs548021746
- TOPMed rs548021746
- gnomAD rs548021746
- Uncertain significance
- Autosomal recessive hypophosphatemic bone disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- MetaLR 0.03
- MetaSVM -1.01
- CADD 18.90
- PolyPhen-2 0.00
- SIFT 0.01
- 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-07)
- Structural context available