Q1102H (p.Gln1102His) variant of POLG (DNA polymerase subunit gamma-1)
Q1102H (p.Gln1102His) 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 Progressive sclerosing poliodystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
Q1102H (p.Gln1102His) variant details
- p.Gln1102His
- rs1336274767
- ClinGen CA10602268
- ClinVar RCV000758471
- gnomAD rs1336274767
- Uncertain significance
- Progressive sclerosing poliodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.77
- REVEL 0.96
- CADD 25.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Progressive sclerosing poliodystrophy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)