Q50R (p.Gln50Arg) variant of POLG (DNA polymerase subunit gamma-1)
Q50R (p.Gln50Arg) in POLG (DNA polymerase subunit gamma-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
Q50R (p.Gln50Arg) variant details
- p.Gln50Arg
- gnomAD rs1301789510
- Missense
- Variant Prioritization Score for Impact Estimate 0.229
- REVEL 0.30
- CADD 0.13
- PolyPhen-2 0.00
- SIFT 0.55
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available