Mutation details:

Protein level identifier (n.a.):

p.Lys462Arg

cDNA level identifier (n.a.):

c.1385A>G

Gene level identifier:

g.73330A>G

Reference, alternative allele:

A, G

Genomic location

not available

Gene name:

SPAST

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

31

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

2 heterozygous (2 in total).