Mutation details:

Protein level identifier (n.a.):

p.Leu195Val

cDNA level identifier (n.a.):

c.583C>G

Gene level identifier:

g.25992C>G

Reference, alternative allele:

C, G

Genomic location

not available

Gene name:

SPAST

Consequence:

missense

Pathogenicity scoring:

Definitely pathogenic

CADD score:

23

Phosphorylation activity:

Positive functional evidence:

31787869;

Number of all included cases:

5 heterozygous (5 in total).