Mutation details:

Protein level identifier (n.a.):

p.Leu360Pro

cDNA level identifier (n.a.):

c.1079T>C

Gene level identifier:

g.52583T>C

Reference, alternative allele:

T, C

Genomic location

not available

Gene name:

SPAST

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

25

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).

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