N27K (p.Asn27Lys) variant of SLC34A3 (Q8N130)
N27K (p.Asn27Lys) in SLC34A3 (Q8N130) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Autosomal recessive hypophosphatemic bone disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
N27K (p.Asn27Lys) variant details
- p.Asn27Lys
- TOPMed rs1465244493
- gnomAD rs1465244493
- Uncertain significance
- Inborn genetic diseases; Autosomal recessive hypophosphatemic bone disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.131
- MetaLR 0.05
- MetaSVM -0.99
- CADD 3.89
- PolyPhen-2 0.04
- SIFT 0.33
- ClinVar: Uncertain significance (Inborn genetic diseases; Autosomal recessive hypophosphatemic bo)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available