S4N (p.Ser4Asn) variant of SLC2A1 (P11166)
S4N (p.Ser4Asn) in SLC2A1 (P11166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; GLUT1 deficiency syndrome 1, autosomal recessive. 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.
S4N (p.Ser4Asn) variant details
- p.Ser4Asn
- rs1335592731
- ClinGen CA339965880
- ClinVar RCV002667524
- ClinVar RCV006262514
- Uncertain significance
- not provided; GLUT1 deficiency syndrome 1, autosomal recessive
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- REVEL 0.17
- CADD 19.90
- PolyPhen-2 0.00
- SIFT 0.41
- ClinVar: Uncertain significance (not provided; GLUT1 deficiency syndrome 1, autosomal recessive)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available