Q55P (p.Gln55Pro) variant of POLG (DNA polymerase subunit gamma-1)
Q55P (p.Gln55Pro) in POLG (DNA polymerase subunit gamma-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
Q55P (p.Gln55Pro) variant details
- p.Gln55Pro
- TOPMed rs1223764065
- gnomAD rs1223764065
- Missense
- Variant Prioritization Score for Impact Estimate 0.172
- REVEL 0.19
- CADD 12.30
- PolyPhen-2 0.00
- SIFT 0.31
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available