Mutation details:

Protein level identifier (n.a.):

p.Lys414Lys

cDNA level identifier (n.a.):

c.1242A>G

Gene level identifier:

g.64866A>G

Reference, alternative allele:

A, G

Genomic location

not available

Gene name:

SPAST

Consequence:

silent

Pathogenicity scoring:

Possibly pathogenic

CADD score:

13

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

6 heterozygous (6 in total).