Details for MAPK7:c.469G>A, p.Ala157Thr

CHROMOSOME 17
GENOMIC COORDINATES
hg19hg38
1928440819381095
VARIANT EFFECT missense
ANNOTATION FLAG manually_attributed
GENE MAPK7
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_139032.3
CDNA CHANGE c.469G>A
PROTEIN CHANGE p.Ala157Thr
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00140.00.00.00690.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00050230.02.894e-050.00.0065880.00.00.00.0001307

ESP
AAEA
0.0002270.0
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedPossibly Damaging2.9564Disease causing
DBSNP ID rs147296805
1 combination linked to MAPK7:c.469G>A, p.Ala157Thr OLI290
1 disease linked to MAPK7:c.469G>A, p.Ala157Thr Adolescent idiopathic scoliosis
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