I76V (p.Ile76Val) variant of POLG (DNA polymerase subunit gamma-1)
I76V (p.Ile76Val) in POLG (DNA polymerase subunit gamma-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
I76V (p.Ile76Val) variant details
- p.Ile76Val
- TOPMed rs1261825887
- Missense
- Variant Prioritization Score for Impact Estimate 0.626
- REVEL 0.64
- CADD 24.00
- PolyPhen-2 0.95
- SIFT 0.17
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available