Mutation details:

Protein level identifier (n.a.):

p.Leu378Gln

cDNA level identifier (n.a.):

c.1133T>A

Gene level identifier:

g.63372T>A

Reference, alternative allele:

T, A

Genomic location

not available

Gene name:

SPAST

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

28

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

7 heterozygous (7 in total).