Q58H (p.Gln58His) variant of POLG (DNA polymerase subunit gamma-1)
Q58H (p.Gln58His) in POLG (DNA polymerase subunit gamma-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
Q58H (p.Gln58His) variant details
- p.Gln58His
- gnomAD rs1285538669
- Missense
- Variant Prioritization Score for Impact Estimate 0.208
- REVEL 0.18
- CADD 14.00
- PolyPhen-2 0.00
- SIFT 0.13
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available