Mutation details:

Protein level identifier (n.a.):

p.Lys73Glu

cDNA level identifier (n.a.):

c.217A>G

Gene level identifier:

g.24659A>G

Reference, alternative allele:

T, C

Genomic location

3:33114064 (not available on ExAC)

Gene name:

GLB1

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

24

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 compound heterozygous (1 in total).