Details for AHNAK:c.13381A>G, p.Met4461Val

CHROMOSOME 11
GENOMIC COORDINATES
hg19hg38
6228850862521036
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE AHNAK
REFERENCE ALLELE T
ALTERNATE ALLELE C
TRANSCRIPT NM_001346445.1
CDNA CHANGE c.13381A>G
PROTEIN CHANGE p.Met4461Val
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00060.00080.00290.00.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0003426.152e-050.00031820.00.04.62e-050.00064170.00.0

ESP
AAEA
0.00.0002326
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedPossibly Damaging2.54105Polymorphism
DBSNP ID rs114666146
1 combination linked to AHNAK:c.13381A>G, p.Met4461Val OLI333
1 disease linked to AHNAK:c.13381A>G, p.Met4461Val Amyotrophic lateral sclerosis
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