Q48H (p.Gln48His) variant of POLG (DNA polymerase subunit gamma-1)
Q48H (p.Gln48His) 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.
Q48H (p.Gln48His) variant details
- p.Gln48His
- ExAC rs763968001
- gnomAD rs763968001
- Missense
- Variant Prioritization Score for Impact Estimate 0.199
- REVEL 0.23
- CADD 0.66
- PolyPhen-2 0.02
- SIFT 0.12
- Most common in the Non-Finnish European population (allele frequency 9.9e-06)
- Structural context available