Mutation details:

Protein level identifier (NP_940980):

Gly2385Arg

cDNA level identifier (NM_198578):

c.7153G>A

Gene level identifier:

g.166783G>A

Reference, alternative allele:

C, A

Genomic location hg(19)

12:40704236

Gene name:

LRRK2

Consequence:

missense

Pathogenicity scoring:

Possibly pathogenic

CADD score:

26

Phosphorylation activity:

1,75 ± 0,53 (mildly activating)

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).