Y44H (p.Tyr44His) variant of SLC2A1 (P11166)
Y44H (p.Tyr44His) in SLC2A1 (P11166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of GLUT1 deficiency syndrome 1, autosomal recessive. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
Y44H (p.Tyr44His) variant details
- p.Tyr44His
- rs375881934
- ClinGen CA803607
- ClinVar RCV001300895
- ESP rs375881934
- Uncertain significance
- GLUT1 deficiency syndrome 1, autosomal recessive
- Missense
- Variant Prioritization Score for Impact Estimate 0.639
- REVEL 0.58
- AlphaMissense 0.96
- MetaLR 0.69
- MetaSVM 0.58
- CADD 28.50
- PolyPhen-2 0.98
- ClinVar: Uncertain significance (GLUT1 deficiency syndrome 1, autosomal recessive)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available