E22K (p.Glu22Lys) variant of SLC34A3 (Q8N130)
E22K (p.Glu22Lys) in SLC34A3 (Q8N130) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; not provided; Autosomal recessive hypophosphatemic bone disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
E22K (p.Glu22Lys) variant details
- p.Glu22Lys
- rs146559846
- ClinGen CA201692409
- cosmic curated COSV63186
- ClinVar RCV001339779
- Uncertain significance
- not specified; not provided; Autosomal recessive hypophosphatemic bone disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- MetaLR 0.03
- MetaSVM -1.06
- CADD 18.60
- PolyPhen-2 0.03
- SIFT 0.15
- ClinVar: Uncertain significance (not specified; not provided; Autosomal recessive hypophosphatemi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 7.4e-05)
- Structural context available