Mutation details:

Protein level identifier (n.a.):

p.*617Glu

cDNA level identifier (n.a.):

c.1849T>G

Gene level identifier:

g.90884T>G

Reference, alternative allele:

T, G

Genomic location

not available

Gene name:

SPAST

Consequence:

missense

Pathogenicity scoring:

Possibly pathogenic

CADD score:

10

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

7 heterozygous (7 in total).