Mutation details:

Protein level identifier (n.a.):

p.Leu426Val

cDNA level identifier (n.a.):

c.1276C>G

Gene level identifier:

g.72983C>G

Reference, alternative allele:

C, G

Genomic location

not available

Gene name:

SPAST

Consequence:

missense

Pathogenicity scoring:

Definitely pathogenic

CADD score:

26

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

9 heterozygous (9 in total).