Mutation details:

Protein level identifier (n.a.):

p.Met390Alafs*3

cDNA level identifier (n.a.):

c.1167_1168delAA

Gene level identifier:

g.63406_63407delAA

Reference, alternative allele:

CAA, C

Genomic location

not available

Gene name:

SPAST

Consequence:

unknown effect

Pathogenicity scoring:

Probably pathogenic

CADD score:

35

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

2 heterozygous (2 in total).