Mutation details:

Protein level identifier (NP_940980):

Pro755Leu

cDNA level identifier (NM_198578):

c.2264C>T

Gene level identifier:

g.87154C>T

Reference, alternative allele:

C, T

Genomic location hg(19)

12:40677699

Gene name:

LRRK2

Consequence:

missense

Pathogenicity scoring:

Possibly pathogenic

CADD score:

25

Phosphorylation activity:

0,80 ± 0,34 (not activating)

Positive functional evidence:

not available

Number of all included cases:

8 heterozygous (8 in total).