S1104F (p.Ser1104Phe) variant of POLG (DNA polymerase subunit gamma-1)
S1104F (p.Ser1104Phe) in POLG (DNA polymerase subunit gamma-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; Progressive sclerosing poliodystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
S1104F (p.Ser1104Phe) variant details
- p.Ser1104Phe
- rs1010372555
- ClinGen CA274541128
- ClinVar RCV002622485
- ClinVar RCV003324040
- Uncertain significance
- not specified; Progressive sclerosing poliodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.892
- REVEL 0.95
- AlphaMissense 0.61
- MetaLR 0.97
- MetaSVM 1.09
- CADD 32.00
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (not specified; Progressive sclerosing poliodystrophy)
- EBI: Likely pathogenic (in PEOB1)
- UniProt: Likely pathogenic (in PEOB1)
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Cited in: POLG-Related Disorders. (PMID 20301791)
- Cited in: Mitochondrial DNA Maintenance Defects Overview. (PMID 29517884)