Details for TP53:c.475G>A, p.Ala159Thr

CHROMOSOME 17
GENOMIC COORDINATES
hg19hg38
75784557675137
VARIANT EFFECT None
ANNOTATION FLAG None
GENE TP53
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT N.A.
CDNA CHANGE c.475G>A
PROTEIN CHANGE p.Ala159Thr
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00.00.00.00.00.00.00.00.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedPossibly Damaging1.96723Disease causing
DBSNP ID NA
1 combination linked to TP53:c.475G>A, p.Ala159Thr OLI1054
1 disease linked to TP53:c.475G>A, p.Ala159Thr Primary ovarian failure

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