Mutation details:

Protein level identifier (n.a.):

p.Phe381Leu

cDNA level identifier (n.a.):

c.1141T>C

Gene level identifier:

g.63380T>C

Reference, alternative allele:

T, C

Genomic location

not available

Gene name:

SPAST

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

29

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

6 heterozygous (6 in total).