Mutation details:

Protein level identifier (n.a.):

p.Leu391Pro

cDNA level identifier (n.a.):

c.1172T>C

Gene level identifier:

g.63411T>C

Reference, alternative allele:

T, C

Genomic location

not available

Gene name:

SPAST

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

34

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

3 heterozygous (3 in total).