Mutation details:

Protein level identifier (n.a.):

p.Ile344Lys

cDNA level identifier (n.a.):

c.1031T>A

Gene level identifier:

g.52535T>A

Reference, alternative allele:

T, A

Genomic location

not available

Gene name:

SPAST

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

26

Phosphorylation activity:

Positive functional evidence:

31285604;

Number of all included cases:

9 heterozygous (9 in total).