V49A (p.Val49Ala) variant of SLC2A1 (P11166)
V49A (p.Val49Ala) in SLC2A1 (P11166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; GLUT1 deficiency syndrome 1, autosomal recessive. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes structural context.
V49A (p.Val49Ala) variant details
- p.Val49Ala
- rs1231935211
- ClinGen CA339962452
- ClinVar RCV001752405
- ClinVar RCV003631220
- Uncertain significance
- not provided; GLUT1 deficiency syndrome 1, autosomal recessive
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- AlphaMissense 0.12
- MetaLR 0.18
- MetaSVM -0.97
- PolyPhen-2 0.00
- SIFT 0.81
- MutPred 0.55
- ClinVar: Uncertain significance (not provided; GLUT1 deficiency syndrome 1, autosomal recessive)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available