R24H (p.Arg24His) variant of POLG (DNA polymerase subunit gamma-1)
R24H (p.Arg24His) in POLG (DNA polymerase subunit gamma-1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
R24H (p.Arg24His) variant details
- p.Arg24His
- cosmic curated COSV10803
- ExAC rs773375256
- TOPMed rs773375256
- gnomAD rs773375256
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.504
- REVEL 0.34
- CADD 24.10
- PolyPhen-2 0.47
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.6e-06)
- Structural context available