G76V (p.Gly76Val) variant of SLC2A1 (P11166)
G76V (p.Gly76Val) in SLC2A1 (P11166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of GLUT1 deficiency syndrome 1, autosomal recessive. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes structural context.
G76V (p.Gly76Val) variant details
- p.Gly76Val
- rs2124450794
- ClinGen CA339961845
- ClinVar RCV001956965
- Ensembl rs2124450794
- Likely pathogenic
- GLUT1 deficiency syndrome 1, autosomal recessive
- Missense
- Variant Prioritization Score for Impact Estimate 0.82
- AlphaMissense 0.99
- MetaLR 0.75
- MetaSVM 0.82
- PolyPhen-2 1.00
- SIFT 0.02
- EVE 0.84
- ClinVar: Likely pathogenic (GLUT1 deficiency syndrome 1, autosomal recessive)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available