Mutation details:

Protein level identifier (n.a.):

p.Arg460Cys

cDNA level identifier (n.a.):

c.1378C>T

Gene level identifier:

g.73323C>T

Reference, alternative allele:

C, T

Genomic location

not available

Gene name:

SPAST

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

33

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 homozygous, 19 heterozygous (20 in total).