Mutation details:

Protein level identifier (n.a.):

p.Val358Leu

cDNA level identifier (n.a.):

c.1072G>C

Gene level identifier:

g.52576G>C

Reference, alternative allele:

G, C

Genomic location

not available

Gene name:

SPAST

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

23

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

3 heterozygous (3 in total).