Details for PRRT2:c.640G>C, p.Ala214Pro

CHROMOSOME 16
GENOMIC COORDINATES
hg19hg38
2982501529813694
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE PRRT2
REFERENCE ALLELE G
ALTERNATE ALLELE C
TRANSCRIPT NM_145239.2
CDNA CHANGE c.640G>C
PROTEIN CHANGE p.Ala214Pro
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.001520.0013850.0010450.00068030.005276.6e-050.00090980.00062310.003908

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging3.443039Polymorphism
DBSNP ID rs745594874
1 combination linked to PRRT2:c.640G>C, p.Ala214Pro OLI330
1 disease linked to PRRT2:c.640G>C, p.Ala214Pro Amyotrophic lateral sclerosis
Found any issues with the data on this page? Report this entry.