Mutation details:

Protein level identifier (n.a.):

p.Thr329Ala

cDNA level identifier (n.a.):

c.985A>G

Gene level identifier:

g.51028A>G

Reference, alternative allele:

T, C

Genomic location

3:33087695 (not available on ExAC)

Gene name:

GLB1

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

26

Phosphorylation activity:

Positive functional evidence:

16314480;

Number of all included cases:

2 compound heterozygous (2 in total).