S68L (p.Ser68Leu) variant of SLC2A1 (P11166)
S68L (p.Ser68Leu) in SLC2A1 (P11166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; GLUT1 deficiency syndrome 1, autosomal recessive. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes structural context.
S68L (p.Ser68Leu) variant details
- p.Ser68Leu
- rs1570593865
- ClinGen CA339962024
- NCI-TCGA Cosmic COSV6528
- ClinVar RCV000799246
- Conflicting interpretations
- not provided; GLUT1 deficiency syndrome 1, autosomal recessive
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- AlphaMissense 0.92
- MetaLR 0.35
- MetaSVM -0.45
- PolyPhen-2 0.08
- SIFT 0.00
- EVE 0.60
- ClinVar: Conflicting classifications of pathogenicity (not provided; GLUT1 deficiency syndrome 1, autosomal recessive)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available