Q43L (p.Gln43Leu) variant of POLG (DNA polymerase subunit gamma-1)
Q43L (p.Gln43Leu) 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 provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
Q43L (p.Gln43Leu) variant details
- p.Gln43Leu
- rs28567406
- ClinGen CA393774547
- ClinVar RCV000733617
- 1000Genomes rs28567406
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.238
- REVEL 0.37
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 0.35
- ClinVar: Uncertain significance (not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available