Q54P (p.Gln54Pro) variant of POLG (DNA polymerase subunit gamma-1)
Q54P (p.Gln54Pro) 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.
Q54P (p.Gln54Pro) variant details
- p.Gln54Pro
- ExAC rs768875981
- gnomAD rs768875981
- Missense
- Variant Prioritization Score for Impact Estimate 0.2
- REVEL 0.23
- CADD 7.29
- PolyPhen-2 0.00
- SIFT 0.27
- Most common in the Non-Finnish European population (allele frequency 7.2e-06)
- Structural context available