M77V (p.Met77Val) variant of SLC2A1 (P11166)
M77V (p.Met77Val) in SLC2A1 (P11166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of GLUT1 deficiency syndrome 1, autosomal recessive; not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
M77V (p.Met77Val) variant details
- p.Met77Val
- rs776583130
- ClinGen CA205940
- ClinVar RCV000192838
- ClinVar RCV003488448
- Conflicting interpretations
- GLUT1 deficiency syndrome 1, autosomal recessive; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.547
- REVEL 0.51
- CADD 23.50
- PolyPhen-2 0.16
- SIFT 0.02
- ClinVar: Conflicting classifications of pathogenicity (GLUT1 deficiency syndrome 1, autosomal recessive; not specified;)
- EBI: Likely benign (in EIG12)
- UniProt: Likely benign (in EIG12)
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available