Details for OPTN:c.293T>A, p.Met98Lys

CHROMOSOME 10
GENOMIC COORDINATES
hg19hg38
1315240013110400
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE OPTN
REFERENCE ALLELE T
ALTERNATE ALLELE A
TRANSCRIPT NM_001008211.1
CDNA CHANGE c.293T>A
PROTEIN CHANGE p.Met98Lys
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.07870.13010.02590.13590.03080.0368

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.044220.11960.019840.072730.12570.025690.027960.043710.0471

ESP
AAEA
0.11760.03221
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign0.770013Polymorphism
DBSNP ID rs11258194
2 combinations linked to OPTN:c.293T>A, p.Met98Lys OLI629; OLI631
1 disease linked to OPTN:c.293T>A, p.Met98Lys Amyotrophic lateral sclerosis
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