R40Q (p.Arg40Gln) variant of POLG (DNA polymerase subunit gamma-1)
R40Q (p.Arg40Gln) 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 0.27 / 1. The record also includes population frequency data and structural context.
R40Q (p.Arg40Gln) variant details
- p.Arg40Gln
- cosmic curated COSV10726
- Ensembl rs200946722
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- REVEL 0.17
- CADD 4.66
- PolyPhen-2 0.00
- SIFT 0.59
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available