A21G (p.Ala21Gly) variant of POLG (DNA polymerase subunit gamma-1)
A21G (p.Ala21Gly) 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 0.24 / 1. The record also includes population frequency data and structural context.
A21G (p.Ala21Gly) variant details
- p.Ala21Gly
- TOPMed rs796052893
- gnomAD rs796052893
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.238
- REVEL 0.17
- CADD 16.90
- PolyPhen-2 0.31
- SIFT 0.16
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available