Mutation details:

Protein level identifier (n.a.):

p.Met390Val

cDNA level identifier (n.a.):

c.1168A>G

Gene level identifier:

g.63407A>G

Reference, alternative allele:

A, G

Genomic location

not available

Gene name:

SPAST

Consequence:

missense

Pathogenicity scoring:

Definitely pathogenic

CADD score:

25

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

7 heterozygous (7 in total).