Details for VAPB:c.510G>A, p.Met170Ile

CHROMOSOME 20
GENOMIC COORDINATES
hg19hg38
5701607658441020
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE VAPB
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_004738.4
CDNA CHANGE c.510G>A
PROTEIN CHANGE p.Met170Ile
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.0010.00080.00.00.0040.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0012660.00049290.00014460.00.00.00050820.0025350.00097850.0

ESP
AAEA
0.0002270.001628
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousBenign3.401208Disease causing
DBSNP ID rs143144050
2 combinations linked to VAPB:c.510G>A, p.Met170Ile OLI274; OLI279
1 disease linked to VAPB:c.510G>A, p.Met170Ile Amyotrophic lateral sclerosis
Found any issues with the data on this page? Report this entry.