Details for MKKS:p.Ser236Pro

CHROMOSOME 20
GENOMIC COORDINATES
hg19hg38
1039345710412809
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE MKKS
REFERENCE ALLELE A
ALTERNATE ALLELE G
TRANSCRIPT N.A.
CDNA CHANGE None
PROTEIN CHANGE p.Ser236Pro
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign0.943362Disease causing
DBSNP ID NA
1 combination linked to MKKS:p.Ser236Pro OLI063
1 disease linked to MKKS:p.Ser236Pro Bardet-Biedl syndrome

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