Mutation details:

Protein level identifier (NP_006507):

p.Val87Ile

cDNA level identifier (NM_006516):

c.259G>A

Gene level identifier:

g.27798G>A

Reference, alternative allele:

C, T

Genomic location hg(19)

1:43396733 (not available on ExAC)

Gene name:

SLC2A1

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

23

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).