N864S (p.Asn864Ser) variant of POLG (DNA polymerase subunit gamma-1)
N864S (p.Asn864Ser) in POLG (DNA polymerase subunit gamma-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Mitochondrial DNA depletion syndrome; Mitochondrial DNA depletion syndrome 4b; P. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
N864S (p.Asn864Ser) variant details
- p.Asn864Ser
- rs121918050
- ClinGen CA123148
- ClinVar RCV000014458
- ClinVar RCV002513043
- Pathogenic
- Mitochondrial DNA depletion syndrome; Mitochondrial DNA depletion syndrome 4b; P
- Missense
- Variant Prioritization Score for Impact Estimate 0.794
- REVEL 0.88
- AlphaMissense 0.48
- MetaLR 0.92
- MetaSVM 1.11
- CADD 26.40
- PolyPhen-2 0.82
- ClinVar: Pathogenic (Mitochondrial DNA depletion syndrome; Mitochondrial DNA depletio)
- EBI: Pathogenic (in MTDPS4B)
- UniProt: Pathogenic (in MTDPS4B)
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal… (PMID 12825077)
- Cited in: Fatal congenital myopathy and gastrointestinal pseudo-obstruction due to POLG1 mutations. (PMID 19307547)