V69L (p.Val69Leu) variant of SLC37A4 (O43826)
V69L (p.Val69Leu) in SLC37A4 (O43826) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Phosphate transport defect; Congenital disorder of glycosylation, type IIw; Gluc. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
V69L (p.Val69Leu) variant details
- p.Val69Leu
- 1000Genomes rs375754042
- ESP rs375754042
- ExAC rs375754042
- TOPMed rs375754042
- Uncertain significance
- Phosphate transport defect; Congenital disorder of glycosylation, type IIw; Gluc
- Missense
- Variant Prioritization Score for Impact Estimate 0.67
- CADD 24.00
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Uncertain significance (Phosphate transport defect; Congenital disorder of glycosylation)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:ESN population (allele frequency 0.0097)
- Structural context available