A70V (p.Ala70Val) variant of SLC2A1 (P11166)
A70V (p.Ala70Val) in SLC2A1 (P11166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Encephalopathy due to GLUT1 deficiency; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes published literature and structural context.
A70V (p.Ala70Val) variant details
- p.Ala70Val
- rs2124450819
- ClinGen CA339961984
- ClinVar RCV002255241
- ClinVar RCV005629968
- Likely pathogenic
- Encephalopathy due to GLUT1 deficiency; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.797
- AlphaMissense 0.94
- MetaLR 0.71
- MetaSVM 0.72
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.80
- ClinVar: Likely pathogenic (Encephalopathy due to GLUT1 deficiency; not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Glucose Transporter Type 1 Deficiency Syndrome. (PMID 20301603)