Mutation details:

Protein level identifier (n.a.):

p.Glu454Lys

cDNA level identifier (n.a.):

c.1360G>A

Gene level identifier:

g.73305G>A

Reference, alternative allele:

G, A

Genomic location

not available

Gene name:

SPAST

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

32

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

2 heterozygous (2 in total).