P73A (p.Pro73Ala) variant of POLG (DNA polymerase subunit gamma-1)
P73A (p.Pro73Ala) in POLG (DNA polymerase subunit gamma-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
P73A (p.Pro73Ala) variant details
- p.Pro73Ala
- gnomAD rs1196343583
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- REVEL 0.31
- CADD 16.70
- PolyPhen-2 0.01
- SIFT 0.43
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available