M96V (p.Met96Val) variant of SLC2A1 (P11166)
M96V (p.Met96Val) in SLC2A1 (P11166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; GLUT1 deficiency syndrome 1, autosomal recessive; Encephalopathy d. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
M96V (p.Met96Val) variant details
- p.Met96Val
- rs753161833
- ClinGen CA803565
- ClinVar RCV000648089
- ClinVar RCV001532534
- Pathogenic/Likely pathogenic
- not provided; GLUT1 deficiency syndrome 1, autosomal recessive; Encephalopathy d
- Missense
- Variant Prioritization Score for Impact Estimate 0.738
- REVEL 0.82
- CADD 24.60
- PolyPhen-2 0.63
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; GLUT1 deficiency syndrome 1, autosomal recessive;)
- EBI: Pathogenic (in GLUT1DS1)
- UniProt: Pathogenic (in GLUT1DS1)
- Most common in the Finnish in Finland (FIN) population (allele frequency 5e-05)
- Structural context available
- Cited in: Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder. (PMID 20129935)
- Cited in: Glucose Transporter Type 1 Deficiency Syndrome. (PMID 20301603)