P35H (p.Pro35His) variant of POLG (DNA polymerase subunit gamma-1)
P35H (p.Pro35His) 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 0.32 / 1. The record also includes population frequency data and structural context.
P35H (p.Pro35His) variant details
- p.Pro35His
- ExAC rs769214289
- TOPMed rs769214289
- gnomAD rs769214289
- Uncertain significance
- Progressive sclerosing poliodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- REVEL 0.16
- CADD 22.90
- PolyPhen-2 0.00
- SIFT 0.01
- ClinVar: Uncertain significance (Progressive sclerosing poliodystrophy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available