Mutation details:

Protein level identifier (n.a.):

p.Asp542Gly

cDNA level identifier (n.a.):

c.1625A>G

Gene level identifier:

g.81335A>G

Reference, alternative allele:

A, G

Genomic location

not available

Gene name:

SPAST

Consequence:

missense

Pathogenicity scoring:

Possibly pathogenic

CADD score:

23

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

2 heterozygous (2 in total).