Details for CFAP410:c.172G>T, p.Val58Leu

CHROMOSOME 21
GENOMIC COORDINATES
hg19hg38
4575311744333234
VARIANT EFFECT missense
ANNOTATION FLAG manually_attributed
GENE CFAP410
REFERENCE ALLELE C
ALTERNATE ALLELE A
TRANSCRIPT N.A.
CDNA CHANGE c.172G>T
PROTEIN CHANGE p.Val58Leu
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00260.00.00.00.01190.001

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0079770.001280.0051610.00040730.00.022690.010940.0077420.001184

ESP
AAEA
0.00068150.01058
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign0.588207Polymorphism
DBSNP ID rs75087725
2 combinations linked to CFAP410:c.172G>T, p.Val58Leu OLI625; OLI634
1 disease linked to CFAP410:c.172G>T, p.Val58Leu Amyotrophic lateral sclerosis
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