Details for PRKN:p.Cys441Arg

CHROMOSOME 6
GENOMIC COORDINATES
hg19hg38
161771208161350176
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE PRKN
REFERENCE ALLELE A
ALTERNATE ALLELE G
TRANSCRIPT N.A.
CDNA CHANGE None
PROTEIN CHANGE p.Cys441Arg
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
5.198e-050.00.00.00.0007080.00.00.00.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging3.999057Disease causing
DBSNP ID rs778305273
1 combination linked to PRKN:p.Cys441Arg OLI128
1 disease linked to PRKN:p.Cys441Arg Parkinson disease

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