Mutation details:

Protein level identifier (NP_940980):

Ala211Val

cDNA level identifier (NM_198578):

c.632C>T

Gene level identifier:

g.67132A>G

Reference, alternative allele:

C, T

Genomic location hg(19)

12:40657679

Gene name:

LRRK2

Consequence:

missense

Pathogenicity scoring:

Possibly pathogenic

CADD score:

12

Phosphorylation activity:

1,28 ± 0,33 (not activating)

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).