Mutation details:

Protein level identifier (n.a.):

p.Gly438Glu

cDNA level identifier (n.a.):

c.1313G>A

Gene level identifier:

g.78749G>A

Reference, alternative allele:

C, T

Genomic location

3:33059974 (not available on ExAC)

Gene name:

GLB1

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

25

Phosphorylation activity:

Positive functional evidence:

19472408;

Number of all included cases:

4 homozygous (4 in total).