V87I (p.Val87Ile) variant of SLC2A1 (P11166)
V87I (p.Val87Ile) 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; Inborn genetic diseases; not p. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes structural context.
V87I (p.Val87Ile) variant details
- p.Val87Ile
- rs1643484242
- ClinGen CA339961617
- ClinVar RCV001218614
- ClinVar RCV004783924
- Conflicting interpretations
- GLUT1 deficiency syndrome 1, autosomal recessive; Inborn genetic diseases; not p
- Missense
- Variant Prioritization Score for Impact Estimate 0.47
- AlphaMissense 0.22
- MetaLR 0.43
- MetaSVM -0.18
- PolyPhen-2 0.33
- SIFT 0.05
- EVE 0.50
- ClinVar: Conflicting classifications of pathogenicity (GLUT1 deficiency syndrome 1, autosomal recessive; Inborn genetic)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available