Q46H (p.Gln46His) variant of POLG (DNA polymerase subunit gamma-1)
Q46H (p.Gln46His) in POLG (DNA polymerase subunit gamma-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
Q46H (p.Gln46His) variant details
- p.Gln46His
- gnomAD rs1234024731
- Missense
- Variant Prioritization Score for Impact Estimate 0.204
- REVEL 0.27
- CADD 7.58
- PolyPhen-2 0.01
- SIFT 0.13
- Most common in the Latino/Admixed American population (allele frequency 2.3e-05)
- Structural context available