Mutation details:

Protein level identifier (NP_006507):

p.Arg458Trp

cDNA level identifier (NM_006516):

c.1372C>T

Gene level identifier:

g.31712C>T

Reference, alternative allele:

G, A

Genomic location hg(19)

1:43392819 (not available on ExAC)

Gene name:

SLC2A1

Consequence:

missense

Pathogenicity scoring:

Definitely pathogenic

CADD score:

33

Phosphorylation activity:

Positive functional evidence:

23280796; 25564316;

Number of all included cases:

4 heterozygous (4 in total).