P56S (p.Pro56Ser) variant of POLG (DNA polymerase subunit gamma-1)
P56S (p.Pro56Ser) 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.
P56S (p.Pro56Ser) variant details
- p.Pro56Ser
- Ensembl rs2055625771
- Missense
- Variant Prioritization Score for Impact Estimate 0.203
- REVEL 0.18
- CADD 7.78
- PolyPhen-2 0.00
- SIFT 0.45
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available