Details for MKKS:p.Ala488Thr

CHROMOSOME 20
GENOMIC COORDINATES
hg19hg38
1038614610405498
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE MKKS
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT N.A.
CDNA CHANGE None
PROTEIN CHANGE p.Ala488Thr
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.01080.03930.00290.00.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0028040.040110.0012440.00.00.05.276e-050.00048893.266e-05

ESP
AAEA
0.037680.0001163
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign0.686827Polymorphism
DBSNP ID rs61734546
1 combination linked to MKKS:p.Ala488Thr OLI087
3 diseases linked to MKKS:p.Ala488Thr Alström syndrome; McKusick-Kaufman syndrome; Bardet-Biedl syndrome

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